Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome-Reference-Cited by-同舟云学术

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Published:2015-08 Issue:2 Volume:97 Page:311-318
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Alby Caroline,Piquand Kevin,Huber Céline,Megarbané André,Ichkou Amale,Legendre Marine,Pelluard Fanny,Encha-Ravazi Ferechté,Abi-Tayeh Georges,Bessières Bettina,El Chehadeh-Djebbar Salima,Laurent Nicole,Faivre Laurence,Sztriha László,Zombor Melinda,Szabó Hajnalka,Failler Marion,Garfa-Traore Meriem,Bole Christine,Nitschké Patrick,Nizon Mathilde,Elkhartoufi Nadia,Clerget-Darpoux Françoise,Munnich Arnold,Lyonnet Stanislas,Vekemans Michel,Saunier Sophie,Cormier-Daire Valérie,Attié-Bitach Tania,Thomas Sophie

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference19 articles.

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2. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes;Putoux;Nat. Genet.,2011

3. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome;Baala;Am. J. Hum. Genet.,2007

4. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome;Delous;Nat. Genet.,2007

5. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes;Valente;Nat. Genet.,2010

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