The Novel Gene Encoding a Putative Transmembrane Protein Is Mutated in Gnathodiaphyseal Dysplasia (GDD)

Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. By linkage analysis of a large Japanese family with GDD, we previously mapped the GDD locus to chromosome 11p14.3-15.1. In the critica...

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Main Authors: Tsutsumi, Satoshi, Kamata, Nobuyuki, Vokes, Tamara J., Maruoka, Yutaka, Nakakuki, Koichi, Enomoto, Shoji, Omura, Ken, Amagasa, Teruo, Nagayama, Masaru, Saito-Ohara, Fumiko, Inazawa, Johji, Moritani, Maki, Yamaoka, Takashi, Inoue, Hiroshi, Itakura, Mitsuo
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182089/
https://ncbi.nlm.nih.gov/pubmed/15124103
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