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Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia.

JOURNAL OF HUMAN GENETICS, no. 7 (2019): 599.0-607.0

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Abstract

Familial florid osseous dysplasia (FFOD) is an autosomal dominant disorder of connective tissue, characterized by lobulated cementum-like masses scattered throughout the jaws and the alveolar process. This study aimed to identify the genetic etiology of a three-generation Chinese family affected with FFOD. A novel missense mutation p.C356...More

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Author
Guoling You
Guoling You
Jinbing Wang
Jinbing Wang
Qihua Fu
Qihua Fu
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