Open AccessMON-493 A Unique Case of Severe Osteogenesis Imperfecta Due to a Novel Heterozygous Mutation in COL1A1 Gene with Overlapping Hypophosphatasia Phenotype
Author(s) -
Marwan Bakhach,
Anna Ryabets-Lienhard,
Pisit Pitukcheewat
Publication year - 2019
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/js.2019-mon-493
Subject(s) - hypophosphatasia , osteogenesis imperfecta , medicine , compound heterozygosity , skeletal disorder , alkaline phosphatase , pathology , phenotype , endocrinology , genetics , gene , biology , osteoporosis , biochemistry , enzyme