Genetic Analysis of in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis

BackgroundType II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gat...

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Principais autores:	Seon Young Kim, Younghak Lee, Yea Eun Kang, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong, Hyon-Seung Yi
Formato:	Artigo
Idioma:	Inglês
Publicado:	Korean Endocrine Society 2018-09-01
Series:	Endocrinology and Metabolism
Assuntos:	Type 2 autosomal dominant osteopetrosis CLCN7 gene Osteosclerosis Whole exome sequencing
Acceso en liña:	https://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-33-380.pdf
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