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

Alby Caroline and Piquand Kevin and Huber Céline and Megarbané André and Ichkou Amale and Legendre Marine and Pelluard Fanny and Encha-Ravazi Ferechté and Abi-Tayeh Georges and Bessiéres Bettina and El Chehadeh-Djebbar Salima and Laurent Nicole and Faivre Laurence and Sztriha László and Zombor Melinda and Szabó Hajnalka and et al.: Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.
AMERICAN JOURNAL OF HUMAN GENETICS, 97 (2). pp. 311-318. ISSN 0002-9297 (2015)

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Item Type: Journal Article
Szerzők száma: 30
Journal or Publication Title: AMERICAN JOURNAL OF HUMAN GENETICS
Date: 2015
Volume: 97
Number: 2
Page Range: pp. 311-318
ISSN: 0002-9297
Faculty/Unit: Faculty of Medicine
Institution: Szegedi Tudományegyetem
Language: English
MTMT rekordazonosító: 3024433
DOI azonosító: https://doi.org/10.1016/j.ajhg.2015.06.003
Date Deposited: 2018. Jan. 25. 15:11
Last Modified: 2022. Aug. 11. 11:07
URI: http://publicatio.bibl.u-szeged.hu/id/eprint/12790
Web of Science® Times Cited: 55 View citing articles in Web of Science®

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