Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in theERFgene-Reference-Cited by-同舟云学术

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in theERFgene

Published:2016-10-13 Issue:3 Volume:54 Page:157-165
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Balasubramanian M^ORCID,Lord H,Levesque S,Guturu H,Thuriot F,Sillon G,Wenger A M,Sureka D L,Lester T,Johnson D S,Bowen J,Calhoun A R,Viskochil D H,Bejerano G,Bernstein J A,Chitayat D,

Publisher

BMJ

Subject

Genetics(clinical),Genetics

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4. Broad proximal phalanx, facial anomalies, hallux valgus, and bronchomalacia: additional case;Tanaka;Am J Med Genet A,1994

5. A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum;Low;Am J Med Genet A,2013

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