Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D,cause a syndrome of developmental delay,happy demeanor,distinctive facial features,and congenital anomalies期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D,cause a syndrome of developmental delay,happy demeanor,distinctive facial features,and congenital anomalies

Authors:	Jehan Suleiman Korbinian M. Riedhammer Timothy Jicinsky Melinda Mundt Laurie Werner Mirjana Gusic Anna L. Burgemeister Hessa S. Alsaif Maha Abdulrahim Nabil N Moghrabi Manal Nicolas‐Jilwan Moeenaldeen AlSayed Weimin Bi Srirangan Sampath Fowzan S. Alkuraya Ayman W. El‐Hattab

Abstract:

Keywords:	chromosomal microarray histone methylation novel gene novel syndrome TASP1 whole exome sequencing