Extending the Mutation Spectrum for Galloway–Mowat Syndrome to Include Homozygous Missense Mutations in the WDR73 Gene

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 w...

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Détails bibliographiques
Publié dans:Am J Med Genet A
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5011457/
https://ncbi.nlm.nih.gov/pubmed/27001912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37533
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