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Autosomal recessive osteopetrosis 4

Autosomal recessive osteopetrosis 4 is caused by a deficient chloride channel. Mutations are found in the CLCN7 gene.

Systematic

Osteopetrosis
Autosomal dominant osteopetrosis 1
Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4
CLCN7
Autosomal recessive osteopetrosis 7
Combined renal tubular acidosis 3 with osteopetrosis 3

References:

1.

Cleiren E et al. (2001) Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.

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2.

Kornak U et al. (2001) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.

external link
3.

Lam CW et al. (2007) DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.

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4.

OMIM.ORG article

Omim 611490 external link
5.

Orphanet article

Orphanet ID 53 external link
Update: Aug. 14, 2020
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