Kategorie:
Ziliopathien
PubID
Gen
MIM
22004009 Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.
ALMS1
20301537 Gene Reviews BBS
ARL6
20301537 Gene Reviews BBS
BBIP1
20301537 Gene Reviews BBS
BBS1
20301537 Gene Reviews BBS
BBS10
20301537 Gene Reviews BBS
BBS12
20301537 Gene Reviews BBS
BBS2
20301537 Gene Reviews BBS
BBS4
20301537 Gene Reviews BBS
BBS5
20301537 Gene Reviews BBS
BBS7
20301537 Gene Reviews BBS
BBS9
26854863 C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
C8orf37
27708425 BBS-like phenotype due to CEP164 mutation: Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
CEP164
29127258 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
CEP19
20301537 Gene Reviews BBS
CEP290
26763875 Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
IFT172
20301537 Gene Reviews BBS
IFT27
27486776 Am J Hum Genet. 2016: Bardet-Biedl Syndrome
IFT74
20301537 Gene Reviews BBS
LZTFL1
20301537 Gene Reviews BBS
MKKS
20301537 Gene Reviews BBS
MKS1
20301537 Gene Reviews BBS
SDCCAG8
20301537 Gene Reviews BBS
TRIM32
20301537 Gene Reviews BBS
TTC8
20301537 Gene Reviews BBS
WDPCP