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Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia

Spondylo-epi-metaphyseal dysplasia (SEMD) is a heterogeneous group of disorders with different modes of inheritance and is characterized by disproportionate or proportionate short stature. To date, more than 30 disease-causing genes have been identified, and different types of SEMD exhibit greatly o...

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Detalles Bibliográficos
Autores principales:	Lv, Shanshan, Zhao, Jiao, Liu, Li, Wang, Chun, Yue, Hua, Zhang, Hao, Li, Shanshan, Zhang, Zhenlin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9473317/ https://www.ncbi.nlm.nih.gov/pubmed/36118854 http://dx.doi.org/10.3389/fgene.2022.960504

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