由TBL1XR1基因c.1337A>G突变引起的Pierpont综合征。

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2022-07-01 DOI:10.1097/MCD.0000000000000416

Marketa Tesarova, Alice Baxova, Hana Hansikova, Lukas Lambert, Alzbeta Vondrackova, Alena Leiska, Jiri Zeman

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引用次数: 3

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Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.

Department of Paediatrics and Adolescent Medicine, Institute of Biology and Medical Genetics and Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic Correspondence to Jiri Zeman, MD, PhD, Department of Paediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 120 00 Prague 2, Czech Republic Tel: +42

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.