Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 79, Issue 3, 2007, Pages 249-251

  Volk, Alexander ^a   Karbasiyan, Mohsen ^b   Semmler, Alexander ^a   Todt, Unda ^c   Urbach, Horst ^a   Klockgether, Thomas ^a   Linnebank, Michael ^a,d  

^a UNIVERSITY OF BONN   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Currarino syndrome; Genes, homeobox; HLXB9; Mutation

Indexed keywords

ADULT; ANORECTAL MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DEFECT; CASE REPORT; CLINICAL FEATURE; CURRARINO SYNDROME; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HLXB9 GENE; HOMEOBOX; HUMAN; LOW BACK PAIN; MALE; MALIGNANT TRANSFORMATION; MENINGITIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SACRUM; SACRUM AGENESIS; SEPSIS; SYMPTOMATOLOGY;

ABNORMALITIES, MULTIPLE; ADULT; ANAL CANAL; FRAMESHIFT MUTATION; HEADACHE; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; LOW BACK PAIN; LUMBAR VERTEBRAE; MAGNETIC RESONANCE IMAGING; MALE; MENINGOCELE; MUTATION; PELVIS; SACRUM; SYNDROME; TRANSCRIPTION FACTORS;

EID: 33947116261     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20340     Document Type: Article

References (8)

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