Brachdactyly instigated as a result of mutation in GDF5 and NOG genes in Pakistani population
Pakistan Journal of Medical Sciences. 2018; 34 (1): 82-87
in English
| IMEMR
| ID: emr-151152
ABSTRACT
Objectives:
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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Pedigree
/
Carrier Proteins
/
Polymerase Chain Reaction
/
Electrophoresis, Polyacrylamide Gel
/
Finger Phalanges
/
Growth Differentiation Factor 5
/
Genotype
/
Genetic Linkage
/
Mutation
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
English
Journal:
Pak. J. Med. Sci.
Year:
2018
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