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

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.: 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: 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: Faculty of Medicine
Institution: Szegedi Tudományegyetem
MTMT id: 3024433
DOI id: https://doi.org/10.1016/j.ajhg.2015.06.003
Date Deposited: 2018. Jan. 25. 15:11
Last Modified: 2020. Mar. 26. 10:43
URI: http://publicatio.bibl.u-szeged.hu/id/eprint/12790
Web of Science® Times Cited: 34 View citing articles in Web of Science®

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