Autosomal-dominant non-syndromic anal atresia: Sequencing of candidate genes, array-based molecular karyotyping, and review of the literature

European Journal of Pediatrics

Volumn 170, Issue 6, 2011, Pages 741-746

  Schramm, Charlotte ^a   Draaken, Markus ^a   Tewes, Gabriel ^b   Bartels, Enrika ^a   Schmiedeke, Eberhard ^c   Märzheuser, Stefanie ^d   Grasshoff Derr, Sabine ^e   Hosie, Stuart ^f   Holland Cunz, Stefan ^g   Priebe, Lutz ^a   Kreiß Nachtsheim, Martina ^a   Hoffmann, Per ^a   Aretz, Stefan ^a   Nöthen, Markus M ^a   Reutter, Heiko ^a   Ludwig, Michael ^a  

^a UNIVERSITY OF BONN   (Germany)

^b EVK Hamm ^*  (Germany)

^c Hospital Bremen Mitte   (Germany)

^d UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Anal atresia; Anorectal malformations; Multiplex family; Ultrashort Hirschsprung's disease

Indexed keywords

EDN3 PROTEIN; ENDOTHELIN BETA RECEPTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; HLXB9 PROTEIN; PROTEIN; PROTEIN RET; THYROXINE; UNCLASSIFIED DRUG;

ANUS ATRESIA; ARTICLE; ASPIRATION BIOPSY; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BREECH PRESENTATION; CASE REPORT; CESAREAN SECTION; CHILD; CONSTIPATION; DYSPAREUNIA; FEMALE; FETUS ECHOGRAPHY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GESTATIONAL AGE; HIRSCHSPRUNG DISEASE; HUMAN; HYPOTHYROIDISM; KARYOTYPE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGOHYDRAMNIOS; OVERACTIVE BLADDER; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TREATMENT FAILURE; URINE INCONTINENCE; UTERINE CERVICITIS; UTERINE CERVIX CERCLAGE;

ABNORMALITIES, MULTIPLE; ADULT; ANUS, IMPERFORATE; CHILD; FEMALE; GENES, DOMINANT; HIRSCHSPRUNG DISEASE; HUMANS; KARYOTYPING; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SYNDROME;

EID: 79959731575     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-010-1332-2     Document Type: Article

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