KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes-Reference-Cited by-同舟云学术

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Published:2011-05-08 Issue:6 Volume:43 Page:601-606
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Putoux Audrey,Thomas Sophie,Coene Karlien L M,Davis Erica E,Alanay Yasemin,Ogur Gönül,Uz Elif,Buzas Daniela,Gomes Céline,Patrier Sophie,Bennett Christopher L,Elkhartoufi Nadia,Frison Marie-Hélène Saint,Rigonnot Luc,Joyé Nicole,Pruvost Solenn,Utine Gulen Eda,Boduroglu Koray,Nitschke Patrick,Fertitta Laura,Thauvin-Robinet Christel,Munnich Arnold,Cormier-Daire Valérie,Hennekam Raoul,Colin Estelle,Akarsu Nurten Ayse,Bole-Feysot Christine,Cagnard Nicolas,Schmitt Alain,Goudin Nicolas,Lyonnet Stanislas,Encha-Razavi Férechté,Siffroi Jean-Pierre,Winey Mark,Katsanis Nicholas,Gonzales Marie,Vekemans Michel,Beales Philip L,Attié-Bitach Tania

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.826.pdf

Reference27 articles.

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2. Salonen, R., Herva, R. & Norio, R. The hydrolethalus syndrome: delineation of a “new,” lethal malformation syndrome based on 28 patients. Clin. Genet. 19, 321–330 (1981).

3. Mee, L. et al. Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. Hum. Mol. Genet. 14, 1475–1488 (2005).

4. Dammermann, A. et al. The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. Genes Dev. 23, 2046–2059 (2009).

5. Schinzel, A. & Schmid, W. Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. Am. J. Med. Genet. 6, 241–249 (1980).

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