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Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

作者信息

Lavillaureix A, Heide S, Chantot-Bastaraud S, Marey I, Keren B, Grigorescu R, Jouannic J M, Gelot A, Whalen S, Héron D, Siffroi J P

机构信息

Département de Génétique médicale, APHP, Hôpital Armand-Trousseau, Paris, France.

Département de Génétique, APHP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

出版信息

Clin Genet. 2017 Nov;92(5):556-558. doi: 10.1111/cge.13062. Epub 2017 Aug 1.

DOI:10.1111/cge.13062
PMID:28762477
Abstract
摘要

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