A previously unreported mutation in a Currarino syndrome kindred

American Journal of Medical Genetics, Part A

Volumn 140, Issue 18, 2006, Pages 1923-1930

  Wang, Raymond Y ^a,b,d   Jones, Julie R ^c   Chen, Steve ^b   Rogers, R Curtis ^c   Friez, Michael J ^c   Schwartz, Charles E ^c   Graham Jr , John M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

^d NONE   (United States)

Author keywords

Currarino; HLXB9; Mutation; Presacral mass; Sacral dysgenesis

Indexed keywords

HOMEODOMAIN PROTEIN;

ADULT; AGED; ANORECTAL MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CONSTIPATION; CURRARINO SYNDROME; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HLXB9 GENE; HOX GENE; HUMAN; INTESTINE OBSTRUCTION; KIDNEY ANOMALY; MENINGOCELE; MISSENSE MUTATION; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; RELATIVE; SACRUM AGENESIS; SCHOOL CHILD; SEPSIS; TETHERED CORD SYNDROME; URINARY TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; ANAL CANAL; CHILD; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; RECTUM; SACRUM; SYNDROME; TRANSCRIPTION FACTORS;

EID: 33748594732     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31420     Document Type: Article

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