Ontology highlight
ABSTRACT:
SUBMITTER: Rosti RO
PROVIDER: S-EPMC5011457 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Rosti Rasim O RO Dikoglu Esra E Zaki Maha S MS Abdel-Salam Ghada G Makhseed Nawal N Sese Jordan C JC Musaev Damir D Rosti Basak B Harbert Mary J MJ Jones Marilyn C MC Vaux Keith K KK Gleeson Joseph G JG
American journal of medical genetics. Part A 20160105 4
Galloway-Mowat syndrome is a rare autosomal-recessive disorder classically described as the combination of microcephaly and nephrotic syndrome. Recently, homozygous truncating mutations in WDR73 (WD repeat domain 73) were described in two of 31 unrelated families with Galloway-Mowat syndrome which was followed by a report of two sibs in an Egyptian consanguineous family. In this report, seven affecteds from four families showing biallelic missense mutations in WDR73 were identified by exome sequ ...[more]