Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
Dulfer
Eelco
E
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands. dulfere@medgen.umcg.nl
Hoefsloot
Lies H
LH
Timmer
Albertus
A
Mom
Constantijne
C
van Essen
Anthonie J
AJ
D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D018833:Chaperonins; D017809:Fatal Outcome; D005260:Female; D005820:Genetic Testing; D056385:Group II Chaperonins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009154:Mutation; D012016:Reference Values; D035781:Siblings
C512111:BBS10 protein, human; C517002:BBS12 protein, human; D018833:Chaperonins; D056385:Group II Chaperonins