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Article

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.

Postgraduate medicine - 1 Nov 2017

Zhang Xiaoya, Wei Zhanying, He Jinwei, Wang Chun, Zhang Zhenlin

Abstract excerpt

OBJECTIVES: Defects in the chloride channel 7 (CLCN7) gene lead to autosomal dominant osteopetrosis type II (ADOII, OPTA2 MIM 166600) and autosomal recessive osteopetrosis, autosomal recessive 4 (ARO, OPTB4 MIM 611490). The objective of the present study was to expand the mutational spectrum and analyze the correlation between mutational sites and clinical phenotypes. METHODS: Seven affected individuals from...

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Identifiers

PMID: 28975865
DOI: 10.1080/00325481.2017.1386529

Genes

CLCN7

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