先证者
异位
外显子组测序
桑格测序
遗传学
原发性睫状体运动障碍
外显子组
复合杂合度
生物
遗传异质性
心脏病
突变
医学
基因
病理
内科学
表型
支气管扩张
肺
作者
Yoav Bolkier,Ortal Barel,Dina Marek‐Yagel,Danit Atias-Varon,Maayan Kagan,Amir Vardi,David Mishali,Uriel Katz,Yishay Salem,Tal Tirosh‐Wagner,Jeffrey M. Jacobson,Annick Raas‐Rothschild,Odelia Chorin,Aviva Eliyahu,Yarden Sarouf,Omer Shlomovitz,Alvit Veber,Nechama Shalva,Elisheva Javasky,Yishay Ben Moshe
标识
DOI:10.1136/jmedgenet-2021-107775
摘要
Our findings contribute to the current knowledge regarding monogenic causes of heterotaxy and its associated congenital heart defects and underscore the role of next-generation sequencing techniques in the diagnostic workup of such patients, and especially among consanguineous families.
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