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Prenatal phenotype of Kabuki syndrome: A case series and literature review
Prenatal Diagnosis ( IF 3 ) Pub Date : 2021-06-29 , DOI: 10.1002/pd.5998
Po Lam So 1 , Ho Ming Luk 2 , Ka Wang Cheung 3 , Winnie Hui 4 , Man Yan Chung 5 , Annisa S L Mak 6 , Wing Yi Lok 7 , Kris Pui Tak Yu 2 , Shirley S W Cheng 2 , Edgar W L Hau 2 , Stephanie Ho 2 , Stephen T S Lam 8 , Ivan F M Lo 2
Affiliation  

Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the literature on prenatal sonographic abnormalities associated with KS.

中文翻译:

歌舞伎综合征的产前表型:病例系列和文献复习

歌舞伎综合征(KS)是一种遗传性疾病,其特征是智力障碍、面部畸形和先天性异常。我们旨在调查 KS 胎儿的产前特征,并对与 KS 相关的产前超声检查异常的文献进行全面审查。
更新日期:2021-08-13
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