A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

European Journal of Human Genetics

Volumn 14, Issue 8, 2006, Pages 971-974

  Titomanlio, Luigi ^a   Giurgea, Irina ^b   Baumann, Clarisse ^a   Elmaleh, Monique ^a   Sachs, Philippe ^a   Chalard, François ^a   Aboura, Azzedine ^a   Verloes, Alain ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANORECTAL MALFORMATION; ANUS ATRESIA; ARTICLE; CASE REPORT; CHROMOSOME 6Q; CORTICAL DYSPLASIA; CYTOGENETICS; DEVELOPMENTAL DISORDER; ECTOPIC TISSUE; EPICANTHUS; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENOTYPE; GIRL; HAPLOTYPE; HUMAN; HYPERTELORISM; MICROPHTHALMIA; NOSE MALFORMATION; NOTOCHORD; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; RECTOVAGINAL FISTULA; SACRUM AGENESIS; SPINE RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; BRAIN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; CONSANGUINITY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MICROSATELLITE REPEATS; PEDIGREE; SACRUM;

FISTULA;

EID: 33746382237     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201635     Document Type: Article

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