Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

Journal of Medical Genetics

Volumn 35, Issue 8, 1998, Pages 617-623

  Mowat, D R ^a   Croaker, G D H ^a   Cass, D T ^a   Kerr, B A ^b   Chaitow, J ^a   Ades L C ^a   Chia, N L ^a   Wilson, M J ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Chromosome 2; Hirschsprung disease; Mental retardation; Microcephaly

Indexed keywords

CONTIG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 2Q; CLINICAL ARTICLE; CONSANGUINITY; CONSTIPATION; FACIES; FEMALE; GENE LOCUS; GENETIC HETEROGENEITY; HIRSCHSPRUNG DISEASE; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0031853185     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.8.617     Document Type: Article

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