A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability

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MODY5, renal cysts, and diabetes syndrome are autosomal dominant entities caused by mutation in the HNF1B gene. Here we report two fetal siblings and their father who have a HNF1B missense mutation and describe the fetal phenotype associated with mutation in this gene. To the best of our knowledge two non-twin siblings with a missense mutation and a severe phenotype have not been reported previously.

OriginalsprogEngelsk
TidsskriftAmerican Journal of Medical Genetics. Part A
Vol/bind161
Udgave nummer1
Sider (fra-til)3191-3195
ISSN1552-4825
DOI
StatusUdgivet - 2013
Eksternt udgivetJa

Bibliografisk note

© 2013 Wiley Periodicals, Inc.

ID: 227523421