MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2023-07-01 DOI:10.1097/MCD.0000000000000460

Tayfun Cinleti, Ali Gülen, Beria Sönmez, Semra Gürsoy, Özge Kangalli Boyacioğlu, Suna Asilsoy, Ayfer Ulgenalp, Özlem Giray Bozkaya, Ahmet Okay Çağlayan

引用次数: 0

Abstract

Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics, Department of Medical Genetics, School of Medicine, Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Allergy and Immunology and Department of Molecular Medicine, Institute of Health Sciences, Dokuz Eylul University, Izmir, Turkey Correspondence to Tayfun Cinleti, MD, Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics, Dokuz Eylül University Research and Application Hospital, Inciraltı Mahallesi Mithatpaşa Street No. 56, İzmir 35330, Turkey Tel: +90 5344331999; e-mail: cinleti@yahoo.com

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伴有SAMD9中新型Lys1024Glu错义变异的10岁女孩的MIRAGE综合征

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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.