High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis: Potential Epistatic Effect of NPHP6 and AHI1 Mutations in Patients with NPHP1 Mutations-Reference-Cited by-同舟云学术

High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis: Potential Epistatic Effect of NPHP6 and AHI1 Mutations in Patients with NPHP1 Mutations

Published:2007-04-04 Issue:5 Volume:18 Page:1566-1575
ISSN:1046-6673
Container-title:Journal of the American Society of Nephrology
language:en
Short-container-title:JASN

Author:

Tory Kálmán,Lacoste Tiphanie,Burglen Lydie,Morinière Vincent,Boddaert Nathalie,Macher Marie-Alice,Llanas Brigitte,Nivet Hubert,Bensman Albert,Niaudet Patrick,Antignac Corinne,Salomon Rémi,Saunier Sophie

Publisher

American Society of Nephrology (ASN)

Subject

Nephrology,General Medicine

Reference44 articles.

1. Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

2. "Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

3. AHI1gene mutations cause specific forms of Joubert syndrome-related disorders

4. Cerebello-oculo-renal syndromes including Arima, Senior-L�ken and COACH syndromes: More than just variants of Joubert syndrome

5. Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

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