Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome

Journal of Pediatric Surgery

Volumn 46, Issue 7, 2011, Pages 1390-1395

  Zu, Shulu ^a   Winberg, Johanna ^a   Arnberg, Fabian ^b   Palmer, Gabriella ^b   Svensson, Pär Johan ^b   Wester, Tomas ^a,b   Nordenskjöld, Agneta ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Currarino syndrome; MNX1 (HLXB9) gene; Mutation; Presacral tumors

Indexed keywords

ADOLESCENT; ADULT; ANORECTAL MALFORMATION; ARTICLE; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CURRARINO SYNDROME; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HOMEOBOX; HOMEOBOX 1 GENE; HUMAN; MALE; MOTONEURON; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PANCREAS; PRESCHOOL CHILD; PRIORITY JOURNAL; SACRUM AGENESIS; SCHOOL CHILD; SEQUENCE ANALYSIS; SWEDEN;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANAL CANAL; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COMPARATIVE GENOMIC HYBRIDIZATION; DELAYED DIAGNOSIS; DIGESTIVE SYSTEM ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HOMEODOMAIN PROTEINS; HUMANS; MALE; MENINGOCELE; MOLECULAR SEQUENCE DATA; PEDIGREE; RECTUM; SACRUM; SWEDEN; SYRINGOMYELIA; TERATOMA; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 79960464835     PISSN: 00223468     EISSN: 15315037     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2011.02.039     Document Type: Article

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