Beckwith-Wiedemann syndrome in adults: Observations from one family and recommendations for care

American Journal of Medical Genetics, Part A

Volumn 146, Issue 13, 2008, Pages 1707-1712

  Greer, Kimberly J ^a   Kirkpatrick, Susan J ^a   Weksberg, Rosanna ^b   Pauli, Richard M ^a,c  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

11p15; Adult natural history; CDKN1C; Male infertility; Wiedemann Beckwith syndrome

Indexed keywords

ADULT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CANCER RISK; CASE REPORT; CONGENITAL BLOOD VESSEL MALFORMATION; ECHOCARDIOGRAPHY; FAMILIAL DISEASE; HEARING LOSS; HUMAN; KIDNEY FUNCTION; KIDNEY MALFORMATION; MALE; MALE INFERTILITY; PATIENT COUNSELING; PRIORITY JOURNAL; SCREENING; SUBFERTILITY;

ADULT; BECKWITH-WIEDEMANN SYNDROME; COUNSELING; CYCLIN-DEPENDENT KINASE INHIBITOR P57; ECHOCARDIOGRAPHY; FEMALE; GERM-LINE MUTATION; HUMANS; INFANT, NEWBORN; INFERTILITY, MALE; KIDNEY; KIDNEY FUNCTION TESTS; MALE; NEOPLASMS; PEDIGREE; PHENOTYPE; RISK FACTORS;

EID: 47149106025     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32332     Document Type: Article

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