Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect

American Journal of Medical Genetics

Volumn 75, Issue 4, 1998, Pages 401-408

  Nye, Jeffrey S ^a,b   Balkin, Nancy ^a   Lucas, Heather ^a   Knepper, Paul A ^a   McLone, David G ^a   Charrow, Joel ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Chromosome 2 deletion; Dysmorphology; Klein Waardenburg syndrome; Spina bifida; Transcription factor disease

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CLINICAL EXAMINATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MENINGOMYELOCELE; NEURAL TUBE DEFECT; PEDIGREE; PRIORITY JOURNAL; SPINA BIFIDA; WAARDENBURG SYNDROME;

CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENINGOMYELOCELE; MICROSATELLITE REPEATS; NEURAL TUBE DEFECTS; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POLYMORPHISM, GENETIC; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 0032477782     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980203)75:4<401::AID-AJMG10>3.0.CO;2-S     Document Type: Article

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