Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences

American Journal of Medical Genetics

Volumn 104, Issue 4, 2001, Pages 267-276

  Russell, Karen L ^a   Ming, Jeffrey E ^b   Patel, Ketan ^a   Jukofsky, Lori ^a   Magnusson, Mark ^b   Krantz, Ian D ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b Holly City Pediatrics   (United States)

Author keywords

CdLS; Cornelia de Lange syndrome; Familial occurrences; Paternal transmission

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; COGNITIVE DEFECT; DE LANGE SYNDROME; DISEASE SEVERITY; DISEASE TRANSMISSION; FACE MALFORMATION; FAMILIAL DISEASE; FATHER; FEMALE; HEARING LOSS; HUMAN; INFANT; INFERTILITY; LIMB MALFORMATION; MALE; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; DE LANGE SYNDROME; FAMILY HEALTH; FEMALE; GENES, DOMINANT; HUMANS; MALE; PEDIGREE;

EID: 0035892937     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10066     Document Type: Article

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