title: Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
authors.affiliation: Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands. dulfere@medgen.umcg.nl
authors.forename: Eelco
authors.initials: E
authors.lastname: Dulfer
authors.forename: Lies H
authors.initials: LH
authors.lastname: Hoefsloot
authors.forename: Albertus
authors.initials: A
authors.lastname: Timmer
authors.forename: Constantijne
authors.initials: C
authors.lastname: Mom
authors.forename: Anthonie J
authors.initials: AJ
authors.lastname: van Essen
mesh_terms: 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
chemical_list: C512111:BBS10 protein, human; C517002:BBS12 protein, human; D018833:Chaperonins; D056385:Group II Chaperonins