PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review-Reference-Cited by-同舟云学术

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review

Published:2020-11 Issue:11 Volume:63 Page:104033
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Mercati Oriane,Abi Warde Marie-Thérèse,Lina-Granade Geneviève,Rio Marlène,Heide Solveig,de Lonlay Pascale,Ceballos-Picot Irène,Robert Matthieu P.,Couloigner Vincent,Beltrand Jacques,Boddaert Nathalie,Rodriguez Diana,Rubinato Elisa,Lapierre Jean-Michel,Merlette Christophe,Sanquer Sylvia,Rötig Agnès,Prokisch Holger,Lyonnet Stanislas,Loundon Natalie,Kaplan Josseline,Bonnefont Jean-Paul,Munnich Arnold,Besmond Claude,Jonard Laurence,Marlin Sandrine

Funder

Fondation Bettencourt-Schueller, MSD-France

association S'entendre

Fondation des Maladies Rares, Paris, France

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference25 articles.

1. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders;Al-Maawali;Eur. J. Hum. Genet.,2015

2. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy;Almoguera;Orphanet J. Rare Dis.,2014

3. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course;Arts;Ann. Neurol.,1993