Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia-Reference-Cited by-同舟云学术

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Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

Published:2013-01 Issue:1 Volume:56 Page:32-35
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Mégarbané André,Pangrazio Alessandra,Villa Anna,Chouery Eliane,Maarawi Joseph,Sabbagh Sandra,Lefranc Gérard,Sobacchi Cristina

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference15 articles.

1. Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor;Villa;Calcif. Tissue Int.,2009

2. A new familial sclerosing bone dysplasia;Chouery;J. Bone Miner. Res.,2010

3. An SNX10 mutation causes malignant osteopetrosis of infancy;Aker;J. Med. Genet.,2012

4. The mutational spectrum of human malignant autosomal recessive osteopetrosis;Sobacchi;Hum. Mol. Genet.,2001

5. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis;Frattini;J. Bone Miner. Res.,2003

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3. Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis;International Journal of Molecular Sciences;2023-06-20

4. Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis;Journal of Human Genetics;2022-12-16

5. Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking;Bone;2022-11

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