Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p97 | (1) | ICCBH2015

Dysosteosclerosis from a unique mutation in SLC29A3

Turan Serap , Mumm Steven , Gottesman Gary S , Abali Saygin , Serpil Bas , Atay Zeynep , William H McAlister , Whyte Michael P , *Dr. Turan and Dr. Mumm contributed equally to this work

Dysosteosclerosis (DSS) is the rare osteopetrosis (OPT) distinguished by metaphyseal osteosclerosis with relative radiolucency of widened diaphyses and platyspondyly. In 2012, mutations in the SLC29A3 gene were discovered to cause DSS.Here, we report a new case of DSS presenting with severe anemia and having a unique homozygous mutation in SLC29A3.Our patient was the 3rd child of consanguineous Turkish parents. She present...