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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

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Jaureguiberry, Graciana De la Dure-Molla, Muriel Parry, David Quentric, Mickael Himmerkus, Nina Kleta, Robert

This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2012
Language Anglais
Journal information "Nephron. Physiology" - Vol. 122, no.1-2, p. 1-6 (2012)
Peer reviewed yes
Publisher Karger (Switzerland)
issn 1660-2137
Publication status Publié
Affiliation UCL - SSS/DDUV - Institut de Duve
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Bibliographic reference Jaureguiberry, Graciana ; De la Dure-Molla, Muriel ; Parry, David ; Quentric, Mickael ; Himmerkus, Nina ; et. al. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.. In: Nephron. Physiology, Vol. 122, no.1-2, p. 1-6 (2012)
Permanent URL http://hdl.handle.net/2078.1/130459