Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Ullah, Asmat

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. [electronic resource] - Congenital anomalies Sep 2018 - 173-175 p. digital

Publication Type: Journal Article

1741-4520

10.1111/cga.12264 doi


Bardet-Biedl Syndrome--diagnosis
Base Sequence
Biological Variation, Population
Chromosomes, Human, Pair 20--chemistry
Consanguinity
Female
Gene Expression
Group II Chaperonins--genetics
Homozygote
Humans
Male
Mutation
Pakistan
Pedigree
Phenotype
Protein Domains