Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.
Laffargue, Fanny; Bourthoumieu, Sylvie; Llanas, Brigitte; Baudouin, Véronique; Lahoche, Annie; Morin, Denis; Bessenay, Lucie; De Parscau, Loïc; Cloarec, Sylvie; Delrue, Marie-Ange; Taupiac, Emmanuelle; Dizier, Emilie; Laroche, Cécile; Bahans, Claire; Yardin, Catherine; Lacombe, Didier; Guigonis, Vincent.
Arch Dis Child
; 100(3): 259-64, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25324567
Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
Mutations in TTC21B cause different phenotypes in two childhood cases in China.
Mortality in Joubert syndrome.
Case 3: Fatigue, Weight Loss, Pallor, and Polydipsia in 12-year-old Girl.
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
Nephronophthisis and related syndromes.
Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.
Affections kystiques du rein.
Development of end-stage renal disease at a young age in two cases with Joubert syndrome.