Open AccessIdentification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient
Author(s) -
Maha Alotaibi,
Ali Mohammed Aldossari,
Anish Khan,
Leena Alotaibi
Publication year - 2022
Publication title -
case reports in pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2090-6811
pISSN - 2090-6803
DOI - 10.1155/2022/5498109
Subject(s) - missense mutation , genetics , short stature , medicine , compound heterozygosity , exome sequencing , osteochondrodysplasia , dysplasia , exome , clinical significance , mutation , gene , biology , pathology
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