Identification of a Novel AMER1 Variant and Craniofacial Phenotypic Spectrum in Osteopathia Striata with Cranial Sclerosis

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DOI:10.1002/ajmg.a.70164
作者：Qing Chen,?Xin Wang,?Nianke Liu,?Wenjun Yuan,?Yaling Song
文献类型：期刊论文
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Wiley

Abstract： Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant genetic disorder mediated by variants in the AMER1 gene, characterized primarily by generali

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