
Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population
Author(s) -
Samiullah Khan,
Muhammad Mudassir,
Naqab Khan,
Asmat Ullah Marwat
Publication year - 2018
Publication title -
pakistan journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.316
H-Index - 30
eISSN - 1682-024X
pISSN - 1681-715X
DOI - 10.12669/pjms.341.12885
Subject(s) - genetics , mutation , medicine , gene , population , missense mutation , genetic linkage , biology , environmental health
Brachdactyly a genetic disorder associated with the abnormal development of metacarpals, phalanges or both which results in the shortening of hands and feet. Mutations in the contributing genes has been recognized with the majority of the investigated syndromic form of brachdactyly. The current study was proposed to examine mutation in NOG and GDF5 genes in a Pakistani family.