HNF1ß: A gene, several phenotypes

Ho, Thien Anh;Godefroid, Nathalie;Devuyst, Olivier;Pirson, Yves;Dahan, Karin;et.al.
(2014) Louvain médical — Vol. 133, n° 4, p. 197-200 (2014)

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Authors
  • Ho, Thien AnhUCLouvain
    Author
  • Godefroid, NathalieUCLouvain
    Author
  • Devuyst, OlivierUCLouvain
    Author
  • Pirson, YvesUCLouvain
    Author
  • Demaret, TanguyUCLouvain
    Author
  • Dahan, KarinUCLouvain
    Author
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Abstract
(en) Mutation of HNFl ß gane leads to a disease with highty variable presentations, ranging from the most typical, such as renal cysts and diabetes syndrome, to less specific and at times isolated manifestations, such as urinary tract malformation, genital abnormality, and mental retardation, while including as well asymptomatic observations like pancreatic atrophy, biological cholesta-sis, and hypomagnesemia. Genetic confirmation of the disease, along with its autosomal dom-inant transmission yet with a high rate of neomutations, provides the patient with the opportunity of appropriate management and genetic counselling
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Ho, T. A., Godefroid, N., Devuyst, O., Pirson, Y., Demaret, T., & Dahan, K. (2014). HNF1ß: A gene, several phenotypes. Louvain médical, 133(4), 197-200. https://hdl.handle.net/2078.5/186863 (Original work published 2014)