TY  - GEN
AU  - Ullah,Asmat
AU  - Khalid,Maryam
AU  - Umair,Muhammad
AU  - Khan,Sher Alam
AU  - Bilal,Muhammad
AU  - Khan,Saadullah
AU  - Ahmad,Wasim
TI  - Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes
SN  - 1741-4520
PY  - 2019///0829
KW  - Bardet-Biedl Syndrome
KW  - diagnosis
KW  - Base Sequence
KW  - Biological Variation, Population
KW  - Chromosomes, Human, Pair 20
KW  - chemistry
KW  - Consanguinity
KW  - Female
KW  - Gene Expression
KW  - Group II Chaperonins
KW  - genetics
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Pakistan
KW  - Pedigree
KW  - Phenotype
KW  - Protein Domains
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1111/cga.12264
ER  -