Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2666-2669

  Dulfer, Eelco ^a   Hoefsloot, Lies H ^b   Timmer, Albertus ^a   Mom, Constantijne ^a   Van Essen, Anthonie J ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; BBS10 PROTEIN, HUMAN; BBS12 PROTEIN, HUMAN; CHAPERONIN;

ABDOMINAL DISTENSION; BARDET BIEDL SYNDROME; BBS10 GENE; BBS12 GENE; BODY DYSMORPHIC DISORDER; CASE REPORT; DNA DETERMINATION; EXON; FEMALE; FETUS; GENE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYDROMETROCOLPOS; KIDNEY DYSPLASIA; LETTER; NEWBORN; POLYDACTYLY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; FATALITY; GENETICS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; REFERENCE VALUE; SIBLING;

BARDET-BIEDL SYNDROME; FATAL OUTCOME; FEMALE; GENETIC TESTING; GROUP II CHAPERONINS; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MUTATION; REFERENCE VALUES; SIBLINGS;

EID: 78349279210     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33650     Document Type: Letter

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