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Article

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

American journal of medical genetics. Part A - 1 Apr 2016

Rosti Rasim O, Dikoglu Esra, Zaki Maha S, Abdel-Salam Ghada, Makhseed Nawal, Sese Jordan C, Musaev Damir, Rosti Basak, Harbert Mary J, Jones Marilyn C, Vaux Keith K, Gleeson Joseph G

Abstract excerpt

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...

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PMID: 27001912
DOI: 10.1002/ajmg.a.37533
PMCID: PMC5011457

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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