European journal of medical genetics最新文献

{"title":"Chromosome heteromorphisms: Critical literature review finds No convincing evidence of harm","authors":"Kamlesh Madan","doi":"10.1016/j.ejmg.2025.105056","DOIUrl":"10.1016/j.ejmg.2025.105056","url":null,"abstract":"<div><div>There are conflicting reports on chromosome heteromorphisms. A large number of papers claim that these variants are found more frequently among infertile couples, especially with recurrent pregnancy loss and are even associated with congenital abnormalities. Other studies have found no evidence to support such claims. A critical review of these papers shows that at present there is no convincing evidence to show that heteromorphic chromosome variants, as described in the International System for Human Cytogenomic Nomenclature (ISCN, 2024), are harmful.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105056"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145400252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concurrent inheritance of achromatopsia and MMAT syndrome in a pedigree: Genetic and clinical insights","authors":"Maryam Aghasipour ,&nbsp;Sina Zoghi ,&nbsp;Afrooz Feili ,&nbsp;Hossein Jafari Khamirani ,&nbsp;Mehrdad Afarid ,&nbsp;Ehsan Namvar ,&nbsp;Seyed Alireza Dastgheib ,&nbsp;Seyed Mohammad Bagher Tabei ,&nbsp;Maryam Feili ,&nbsp;Mehdi Dianatpour","doi":"10.1016/j.ejmg.2025.105045","DOIUrl":"10.1016/j.ejmg.2025.105045","url":null,"abstract":"<div><h3>Background</h3><div>Achromatopsia is a rare type of retinal dystrophy presenting with decreased visual acuity, pendular nystagmus, photophobia, impaired color discrimination, and central scotoma. In this study, we investigated achromatopsia in a proband and his family.</div></div><div><h3>Methods</h3><div>Whole-exome sequencing identified two novel variants in <em>PDE6H</em> and <em>ADAMTS18</em>. The presence of the variants was confirmed by Sanger sequencing and it was further utilized to determine the zygosity status of other family members. Lastly, the clinical presentations of the patients were thoroughly assessed.</div></div><div><h3>Results</h3><div>We identified two novel variants in two genes among six patients from a pedigree: <em>PDE6H</em> (NM_006205.3):c.35C &gt; G (p.SER12TER) and <em>ADAMTS18</em> (NM_199355.4):c.3139C &gt; T (p.ARG1047TER). The proband and two of his sisters were homozygous for the variant in PDE6H and heterozygous for the other one. The siblings complained of decreased visual acuity, impaired color discrimination, photophobia, and myopia. Ellipsoid zone disruption and pendular nystagmus were also noted in two and three of the patients, respectively. Two affected patients were heterozygous for the variant identified in <em>PDE6H</em> and homozygous for the variant detected in <em>ADAMTS18</em>. These two are the second generation of the family, born to non-consanguineous parents. Both presented with microcornea, myopia, and telecanthus. Punctual atresia and strabismus were also noted.</div></div><div><h3>Conclusion</h3><div>Pathogenic variants in <em>PDE6H</em> and <em>ADAMTS18</em> can cause a broad range of ophthalmic disorders. We suggest that the study of rare congenital genetic diseases in developing countries should be prioritized due to the differences in their environments and the issues care givers are confronted with when trying to face them.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105045"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145063779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape","authors":"Yuya Tanaka ,&nbsp;Mamiko Yamada ,&nbsp;Fuyuki Miya ,&nbsp;Toshimitsu Otani ,&nbsp;Yoshifumi Kasuga ,&nbsp;Hisato Suzuki ,&nbsp;Noboru Inagaki ,&nbsp;Susan M. White ,&nbsp;Mamoru Tanaka ,&nbsp;Kenjiro Kosaki","doi":"10.1016/j.ejmg.2025.105048","DOIUrl":"10.1016/j.ejmg.2025.105048","url":null,"abstract":"<div><div>Germline variants in <em>ARID1A</em> have been associated with the so-called BAFopathies, including Coffin-Siris syndrome, which is characterized by hypertrichosis, short fifth finger, thin upper lip, and thick lower lip, is associated with a unique episignature. Hydrocephalus has not been considered part of BAFopathy until recently, when <em>ARID1A</em> variants were implicated in prenatal-onset hydrocephalus. It remains unknown whether <em>ARID1A</em>-associated hydrocephalus is linked to a specific class of variants and whether it exhibits an episignature comparable to that of BAFopathies. We conducted genomic and epigenomic analyses on a fetus diagnosed with severe hydrocephalus on prenatal ultrasound at 19 weeks. After detailed genetic counseling, the pregnancy was terminated at 21 weeks. The delivered fetus exhibited short fifth fingers, thin upper lip, and thick lower lip. Postmortem exome sequencing using umbilical cord blood identified a <em>de novo</em> heterozygous frameshift variant in the last exon of <em>ARID1A</em> (NM_006015.6:c.5259_5262dupGTCT, p.(Ser1755Valfs∗2)). The frameshift variant in the last exon was expected to escape nonsense-mediated mRNA decay (NMD), and we did confirm this through RNA-seq. Concurrent episignature analysis by nanopore sequencing and a support vector machine-based classifier showed that the fetus maps to the BAFopathy group rather than a separate position on the UMAP. Genotype-phenotype correlation analysis of unpublished data from previous reports regarding hydrocephalus and potential NMD escape, with input from the original authors, indicated that the association remains ambiguous. Hence, <em>ARID1A</em>-associated hydrocephalus occurs within the broader clinical and epigenomic spectrum of BAFopathies, but a distinct genetic mechanism caused by NMD escape is unlikely to play a role.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105048"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Re-evaluating acceptable risk of death from gene therapy: A threshold study among individuals with Duchenne muscular dystrophy and their caregivers in the US and UK","authors":"Holly Peay ,&nbsp;Ryan Fischer ,&nbsp;Megan McNiff ,&nbsp;Emma Heslop ,&nbsp;Anna Pierce ,&nbsp;Brian Denger ,&nbsp;Eric Camino ,&nbsp;Alexandra Johnson ,&nbsp;Heidi Cope ,&nbsp;Christine Hill ,&nbsp;Katherine L. Beaverson ,&nbsp;Annie Ganot ,&nbsp;Dawn Phillips ,&nbsp;Ione O.C. Woollacott ,&nbsp;Alison Bateman-House ,&nbsp;Kevin M. Flanigan ,&nbsp;Nathalie Goemans ,&nbsp;Laurent Servais ,&nbsp;Michela Guglieri ,&nbsp;Carol Mansfield","doi":"10.1016/j.ejmg.2025.105050","DOIUrl":"10.1016/j.ejmg.2025.105050","url":null,"abstract":"<div><div>Patient and caregiver treatment preferences should be incorporated into the drug development process. We updated a 2018 survey to reflect current knowledge about gene therapy for Duchenne muscular dystrophy (DMD) and obtained new data in the U.S., U.K., and other countries. At data collection in 2023, there were no approved gene therapies for DMD. Using the threshold technique, we assessed the maximum acceptable risk of death (MAR) from non-curative gene therapy with time-limited benefit at different stages of DMD progression. Among 263 participants, mean MAR ranged from 2.4 % (treatment in newborns) to 5.4 % (last year able to lift hands to mouth); risk tolerance increased with advancing disease stages. Significant proportions (22.4 %–32.8 %) were willing to accept MAR &gt;10 %. Reasons for higher MAR included the progressive and severe disease, limited treatment alternatives, and participant-reported expected therapy benefits. Those who demonstrated less risk tolerance described uncertainty, maintaining quality of life, optimism regarding future therapies, and the currently uncertain duration of benefit. There were no significant differences in MAR between caregivers and adults with DMD and between respondents in the U.S. and U.K except in the newborn period, though our small sample size is a limitation. MARs remained relatively stable from 2018 to 2023.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105050"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145274179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic yield of whole exome sequencing in a cohort of 825 patients","authors":"Peter Førster Andersen ,&nbsp;Jakob Ek ,&nbsp;Helena Gásdal Karstensen ,&nbsp;Mads Bak ,&nbsp;Sabine Weller Grønborg ,&nbsp;Hanne Buciek Hove ,&nbsp;Birgitte Diness ,&nbsp;Tina Duelund Hjortshøj ,&nbsp;Trine Bjørg Hammer ,&nbsp;Christina Høi-Hansen ,&nbsp;Bitten Schönewolf-Greulich ,&nbsp;Anne-Marie Bisgaard ,&nbsp;Morten Duno ,&nbsp;Elsebet Østergaard","doi":"10.1016/j.ejmg.2025.105043","DOIUrl":"10.1016/j.ejmg.2025.105043","url":null,"abstract":"<div><div>Genetic testing plays a significant role in rare disease diagnostics. The most widespread technology for genetic testing of patients is <em>next generation sequencing</em> or <em>second-generation sequencing, including whole exome sequencing</em> (WES). Our laboratory performed diagnostic WES on 1660 samples representing 825 index patients aged 0–84 years between 2014 and 2020. The cohort is comprised of consecutive patients with a rare disease referred for diagnostic WES with analysis of all known disease genes. The main referrals were paediatric, clinical genetic and adult neurology departments.</div><div>Patients’ symptoms were translated to terms in the Human Phenotype Ontology (HPO) system and each symptom assigned to a single top-level HPO term. Variants were classified according to ACMG-AMP guidelines.</div><div>The diagnostic yield in this cohort was 33.7 % with 278 patients receiving a genetic diagnosis.</div><div>Patients with complex phenotypes with involvement of several organ systems were more likely to receive a genetic diagnosis. Higher diagnostic yields were seen for phenotypes including growth abnormalities, abnormalities of the ear or of the musculoskeletal system as well.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105043"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144999917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expansion of the phenotype in ZFX neurodevelopmental disorder in a family","authors":"Linda van der Tol ,&nbsp;Miranda de Jong ,&nbsp;Mariëlle Alders ,&nbsp;Martina Wilke ,&nbsp;Vyne van der Schoot ,&nbsp;Marjon A. van Slegtenhorst ,&nbsp;Anne Goverde","doi":"10.1016/j.ejmg.2025.105053","DOIUrl":"10.1016/j.ejmg.2025.105053","url":null,"abstract":"<div><div>With new and increasingly sensitive techniques for genetic testing, genes that are newly related to a phenotype or disease are still identified, warranting for adequate phenotyping.</div><div>Recently, 11 variants in the <em>ZFX</em> gene were reported to cause a distinct X-linked neurodevelopmental disorder in 18 male patients, and a female was reported with hyperparathyroidism in concurrence with a <em>ZFX</em> variant. In this report, we present a male patient and his mother with a new likely pathogenic variant in the <em>ZFX</em> gene (NM_003410.4(<em>ZFX</em>): c.2363C &gt; G, p. Pro788Arg). The phenotype of the patient includes a global neurodevelopmental delay and several additional features greatly overlapping with the phenotype in previously described patients, including facial features, hypotonia, diminished white matter and thin corpus callosum, inguinal and umbilical herniation, and ophthalmological abnormalities. An elevated PTH was noted, with normocalcemia, a possible early sign of hyperparathyroidism. Additionally, a small colon, signs of a bleeding diathesis and a cervical swelling of non-specific origin were present, which were not reported in patients with <em>ZFX</em> variants before. The mother presents with fatigue, low iron status and a slight elevation of PTH with normocalcemia.</div><div>This report adds valuable data to the phenotypical spectrum of the <em>ZFX</em>-related neurodevelopmental disorder.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105053"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145279279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants","authors":"Sadao Nakamura ,&nbsp;Yasutsugu Chinen ,&nbsp;Hirotaka Minema ,&nbsp;Ryoko Honda ,&nbsp;Tomonori Ono ,&nbsp;Takeshi Mizuguchi ,&nbsp;Naomichi Matsumoto ,&nbsp;Koichi Nakanishi","doi":"10.1016/j.ejmg.2025.105047","DOIUrl":"10.1016/j.ejmg.2025.105047","url":null,"abstract":"<div><div>Evidence has shown that pathogenic variants of the <em>PLPBP</em> gene can cause vitamin B6-dependent epilepsy, a condition characterized by neonatal-onset seizures that respond to vitamin B6 supplementation. In this paper, we report a case of vitamin B6-dependent epilepsy in a Japanese girl caused by compound heterozygous variants in <em>PLPBP</em>, NM_007198.4: c.275A &gt; G (p. H92R) (novel)/c.319G &gt; A (p. A107T) (reported), which developed when the patient was just 8 months old but was diagnosed at 10 years of age. Even after the neonatal period, vitamin B6-dependent epilepsy should be considered as a differential diagnosis of refractory epilepsy, with genetic analysis being useful for its diagnosis and treatment.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105047"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants","authors":"Ayşe Burcu Doğan Arı ,&nbsp;Ayberk Türkyılmaz ,&nbsp;Büşranur Çavdarlı ,&nbsp;Esra Kılıç","doi":"10.1016/j.ejmg.2025.105052","DOIUrl":"10.1016/j.ejmg.2025.105052","url":null,"abstract":"<div><div>Kabuki syndrome (KS, #147920) is a rare genetic disorder characterized by postnatal growth deficiency, hypotonia, typical facial features, microcephaly, persistence of fetal fingertip pads, and intellectual disability. It is caused by variants in <em>KMT2D</em> and <em>KDM6A</em>, which encode proteins that regulate gene expression during embryogenesis and growth through histone methylation. This study reports 13 KS patients exhibiting distinct phenotypic features and 13 <em>KMT2D</em> variants, three of which were novel. All the patients exhibited a characteristic facial appearance and prominent fetal pads. Cardiac defects and ophthalmologic findings were present in 11 patients (84 %), renal anomalies in seven (54 %), and hearing loss in six (46 %). Intellectual disability was observed in 11 of 12 patients (91 %). One patient had pilomatricoma and another had ganglioneuroblastoma. In all patients, a diagnosis of Kabuki syndrome was considered based on the characteristic facial and clinical features. Molecular diagnosis was confirmed through <em>KMT2D</em> and <em>KDM6A</em> sequencing and whole exome analysis. This study aimed to describe the clinical and molecular characteristics of KS patients, expand the known <em>KMT2D</em> mutation spectrum, and contribute new clinical and molecular data to the literature. Accurate diagnosis is essential for improving clinical awareness, guiding patient management, and providing genetic counseling to affected families.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105052"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank","authors":"Giorgio Cocchella ,&nbsp;Lillian Phung ,&nbsp;Elisabeth Wood ,&nbsp;Brian Egleston ,&nbsp;Lily Hoffman-Andrews ,&nbsp;Sarah Brown ,&nbsp;Demetrios Ofidis ,&nbsp;Rajia Mim ,&nbsp;Hannah Griffin ,&nbsp;Dominique Fetzer ,&nbsp;Anjali Owens ,&nbsp;Susan Domchek ,&nbsp;Reed Pyeritz ,&nbsp;Bryson W. Katona ,&nbsp;Staci Kallish ,&nbsp;Giorgio Sirugo ,&nbsp;JoEllen Weaver ,&nbsp;Katherine L. Nathanson ,&nbsp;Daniel J. Rader ,&nbsp;Angela R. Bradbury","doi":"10.1016/j.ejmg.2025.105061","DOIUrl":"10.1016/j.ejmg.2025.105061","url":null,"abstract":"<div><div>While research participants report interest in receiving genetic research results, how best to return results to ensure medical benefits remains unclear. In the Penn Medicine Biobank Return of Results Study, participants receive results through a digital intervention or a genetic counselor and are recommended to complete clinical confirmation testing and a visit in clinical genetics. We reviewed EHR encounters to understand longitudinal clinical outcomes in 16 patients who completed all steps (Group A), 8 patients who did not complete the clinical genetics visit (Group B), and 21 patients who did not complete confirmation testing or the clinical genetics visit (Group C). Most participants in Group A (69 %) had evidence of adherence to medical recommendations. Some patients faced usual barriers to care and related to comorbid conditions. In contrast, most participants in Group B (75 %) did not have evidence of discussing their confirmed result with a provider or adherence to medical recommendations. Most participants in Group C (71 %) did not have evidence of discussing their research results with providers, although one discussed their unconfirmed result. Men were less likely to complete all steps (Group A), and participants with cardiovascular results were less likely to complete the medical visit (Group B). There was no documentation regarding testing in relatives in any non-genetics encounters for any groups. These data suggest that the steps following return of research results may be critical to realizing the medical benefits of returning actionable genetic research results and highlight the importance of collecting systematic longitudinal outcomes.</div></div><div><h3>Clinical trial registration</h3><div>NCT04242667.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105061"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145530615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COL12A1-related myopathic Ehlers–Danlos syndrome with Chiari I malformation: A clinical report","authors":"Jun Shinmi ,&nbsp;Hotake Takizawa ,&nbsp;Yoshihiko Saito ,&nbsp;Ayano Matsui ,&nbsp;Yasushi Oya ,&nbsp;Ryoichi Sakuta ,&nbsp;Ichizo Nishino ,&nbsp;Yuji Takahashi","doi":"10.1016/j.ejmg.2025.105057","DOIUrl":"10.1016/j.ejmg.2025.105057","url":null,"abstract":"<div><div>Myopathic Ehlers–Danlos syndrome (mEDS) is a rare connective tissue disorder caused by pathogenic variants in <em>COL12A1</em>. It is characterized by congenital muscle hypotonia, muscle atrophy, and age-related improvement. We report the first detailed adult patient of mEDS with a novel compound heterozygous <em>COL12A1</em> variant, complicated by Chiari I malformation and hydrocephalus. The patient presented with neonatal hypotonia, delayed motor milestones, scoliosis, and joint hypermobility, yet achieved independent ambulation. Muscle biopsy and immunostaining revealed markedly decreased levels of collagen XII. RNA sequencing demonstrated near absence of the long isoform and residual expression of the short isoform, potentially underlying the patient's clinical improvement. This is the first report to clarify the mechanism of preserved motor function in mEDS using RNA sequencing and immunostaining. Chiari I malformations may help distinguish mEDS from <em>COL6</em>-related disorders.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105057"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145412762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}