首例stag2相关综合征性疾病的报告，由部分外显子缺失遗传自无症状的马赛克携带者母亲。

IF 0.5 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-07-15 DOI:10.1097/MCD.0000000000000537

Joshua C K Chan, Tracy C H Wong, Chung-Yin Mo, Sharon T H Fung, Timothy H T Cheng, Shirley S W Cheng, Ho-Ming Luk

引用次数: 0

摘要

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First case report of STAG2 -associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother.

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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.