A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly

We report a second patient with intrauterine growth retardation, congenital polycystic kidney disease, infancy‐onset diabetes, microcephaly, and liver fibrosis caused by a homozygous PDIA6 loss‐of‐function variant. Our study further defines the genetic and clinical features of this rare syndromic fo...

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Detalles Bibliográficos
Autores principales: De Franco, Elisa, Wakeling, Matthew N., Frew, Russel D., Russ‐Silsby, James, Peters, Catherine, Marks, Stephen D., Hattersley, Andrew T., Flanagan, Sarah E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Letters to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796798/
https://www.ncbi.nlm.nih.gov/pubmed/35856135
http://dx.doi.org/10.1111/cge.14187

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