Ontology highlight
ABSTRACT:
SUBMITTER: Mortreux J
PROVIDER: S-EPMC5838970 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Mortreux Jérémie J Busa Tiffany T Germain Dominique P DP Nadeau Gwenaël G Puechberty Jacques J Coubes Christine C Gatinois Vincent V Cacciagli Pierre P Duffourd Yannis Y Pinard Jean-Marc JM Tevissen Hélène H Villard Laurent L Sanlaville Damien D Philip Nicole N Missirian Chantal C
European journal of human genetics : EJHG 20171129 1
<h4>Introduction</h4>A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing in consanguineous families. Disease-associated variants in TRAPPC9 were reported in eight multiplex consanguineous sibships from different ethnic backgrounds, and led to the delineation of the phenotype. Affected patients have microcephaly, obesity, normal motor development, sever ...[more]