12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4-Reference-Cited by-同舟云学术

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4

Published:2013-10 Issue:10 Volume:56 Page:580-583
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Molin Arnaud,Benoist Guillaume,Jeanne-Pasquier Corinne,Elkartoufi Nadia,Litzer Julie,Decamp Matthieu,Gruchy Nicolas,Durand-Malbruny Marion,Begorre Marianne,Attie-Bitach Tania,Leporrier Nathalie

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference10 articles.

1. The Meckel syndrome in Finland: epidemiologic and genetic aspects;Salonen;Am. J. Med. Genet.,1984

2. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome;Kyttälä;Nat. Genet.,2006

3. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation;Khaddour;Hum. Mutat.,2007

4. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies;Iannicelli;Hum. Mutat.,2010

5. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome;Baala;Am. J. Med. Hum. Genet.,2007

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5. Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings;Human Genomics;2020-06-29