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Erythrokeratoderma variabilis caused by a recessive mutation in GJB3

✍ Scribed by D. Fuchs-Telem; Y. Pessach; B. Mevorah; I. Shirazi; O. Sarig; E. Sprecher


Book ID
108696861
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
396 KB
Volume
36
Category
Article
ISSN
0307-6938

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Homozygous inactivating mutations in __DMP1__ (__dentin matrix protein 1__), the gene encoding a noncollagenous bone matrix protein expressed in osteoblasts and osteocytes, cause autosomal recessive hypophosphatemia (ARHP). Herein we describe a family with ARHP owing to a novel homozygous __DMP1__ m