A multiplex family with possible metaphyseal Spahr‐type dysplasia and exclusion ofRMRPandCOL10A1as candidate genes
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference17 articles.
1. American Journal of Medical Genetics 01487299 10968628 2004
2. Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia;Castriota‐Scanderbeg;Am J Med Genet,2001
3. Mapping of a new locus for autosomal recessive demyelinating Charcot‐Marie‐Tooth disease to 19q13. 1‐13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate gene;Delague;Am J Hum Genet,2000
4. Hand involvement in Schmid metaphyseal chondrodysplasia;Elliot;Am J Med Genet Part A,2005
5. The second family of Spahr‐type metaphyseal chondrodysplasia: Autosomal recessive inheritance confirmed;Farag;Clin Genet,1990
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2. Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings;Clinical Dysmorphology;2017-01
3. A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services;Journal of Community Genetics;2014-09-27
4. Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia;European Journal of Human Genetics;2014-04-30
5. MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type;American Journal of Medical Genetics Part A;2014-03-19
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