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.
Originalsprog | Engelsk |
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Tidsskrift | American Journal of Medical Genetics. Part A |
Vol/bind | 161 |
Udgave nummer | 1 |
Sider (fra-til) | 3191-3195 |
ISSN | 1552-4825 |
DOI | |
Status | Udgivet - 2013 |
Eksternt udgivet | Ja |
Bibliografisk note
© 2013 Wiley Periodicals, Inc.
ID: 227523421