Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis

American Journal of Human Genetics

Volumn 62, Issue 4, 1998, Pages 848-854

  Gelb, Bruce D ^a   Willner, Judith P ^a   Dunn, Teresa M ^a   Kardon, Nataline B ^a   Verloes, Alain ^b   Poncin, Jacques ^b   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Centre for Human Genetics   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN;

ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; CHROMOSOME 1; CLINICAL FEATURE; DNA POLYMORPHISM; HUMAN; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

EID: 0031947559     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301795     Document Type: Article

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