Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum-Reference-Cited by-同舟云学术

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

Published:2016-05-19 Issue:8 Volume:61 Page:693-699
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Moutton Sébastien,Fergelot Patricia,Naudion Sophie,Cordier Marie-Pierre,Solé Guilhem,Guerineau Elodie,Hubert Christophe,Rooryck Caroline,Vuillaume Marie-Laure,Houcinat Nada,Deforges Julie,Bouron Julie,Devès Sylvie,Le Merrer Martine,David Albert,Geneviève David,Giuliano Fabienne,Journel Hubert,Megarbane André,Faivre Laurence,Chassaing Nicolas,Francannet Christine,Sarrazin Elisabeth,Stattin Eva-Lena,Vigneron Jacqueline,Leclair Danielle,Abadie Caroline,Sarda Pierre,Baumann Clarisse,Delrue Marie-Ange,Arveiler Benoit,Lacombe Didier,Goizet Cyril,Coupry Isabelle

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201637.pdf

Reference19 articles.

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2. Robertson, S. P. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. Eur. J. Hum. Genet. 15, 3–9 (2007).

3. Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H. et al. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am. J. Hum. Genet. 87, 146–153 (2010).

4. Naudion, S., Moutton, S., Coupry, I., Sole, G., Deforges, J., Guerineau, E. et al. Fetal phenotypes in otopalatodigital spectrum disorders. Clin. Genet. 89, 371–377 (2015).

5. Robertson, S. P., Twigg, S. R., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D. et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat. Genet. 33, 487–491 (2003).

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