Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome

Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome

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Bibliographic Details
Main Authors: Alby Caroline
Piquand Kevin
Huber Céline
Megarbané André
Ichkou Amale
Legendre Marine
Pelluard Fanny
Encha-Ravazi Ferechté
Abi-Tayeh Georges
Bessiéres Bettina
El Chehadeh-Djebbar Salima
Laurent Nicole
Faivre Laurence
Sztriha László
Zombor Melinda
Szabó Hajnalka
et al
Format: Article
Published: 2015
Series:AMERICAN JOURNAL OF HUMAN GENETICS 97 No. 2
doi:10.1016/j.ajhg.2015.06.003

mtmt:3024433
Online Access:http://publicatio.bibl.u-szeged.hu/12790
Description
Physical Description:311-318
ISSN:0002-9297

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