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

Rasmussen Maria | Zendy; Ramsing Mette | Zendy; Petersen Olav Bjørn | Zendy; Vogel Ida | Zendy; Sunde Lone | Zendy

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

Author(s) -

Rasmussen Maria,

Ramsing Mette,

Petersen Olav Bjørn,

Vogel Ida,

Sunde Lone

Publication year - 2013

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.36190

Subject(s) - hnf1b , missense mutation , mutation , phenotype , genetics , disease , biology , fetus , gene , medicine , pregnancy , homeobox , gene expression

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. © 2013 Wiley Periodicals, Inc.

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