Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patien...

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Detalles Bibliográficos
Autores principales: Guo, Long, Elcioglu, Nursel H, Mizumoto, Shuji, Wang, Zheng, Noyan, Bilge, Albayrak, Hatice M, Yamada, Shuhei, Matsumoto, Naomichi, Miyake, Noriko, Nishimura, Gen, Ikegawa, Shiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
https://www.ncbi.nlm.nih.gov/pubmed/28331220
http://dx.doi.org/10.1038/jhg.2017.38

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
https://www.ncbi.nlm.nih.gov/pubmed/28331220
http://dx.doi.org/10.1038/jhg.2017.38

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