心室肥大
生物
张力减退
发育不良
表型
遗传学
医学
病理
解剖
基因
胎儿
怀孕
作者
Linda M. Reis,Mohit Maheshwari,Jenina Capasso,Hüban Atilla,Ľubica Ďuďáková,Samuel Thompson,Lia Zitano,Guillermo Lay‐Son,R. Brian Lowry,Jennifer D. Black,Joseph Lee,Ann Shue,Radka Kremlíková Pourová,Manuela Vaněčková,Pavlína Skalická,Jana Jedličková,Marie Trková,Bradley A. Williams,Gabriele Richard,Kristine Bachman
标识
DOI：10.1136/jmg-2022-108646
摘要
Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.
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