Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping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

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

Authors:	C.L. Beaulieu A. Masurel‐Paulet H. Najmabadi Z. Fattahi M. Beheshtian S.H. Tonekaboni S. Tang K.L. Helbig W. Alcaraz J.‐B. Rivière L. Faivre A.M. Innes R.R. Lebel K.M. Boycott CareRare Canada Consortium

Abstract:

Keywords:	Beaulieu– Boycott– Innes syndrome congenital malformations dysmorphism exome sequencing intellectual disability THO complex THOC6