학술논문
Bowen-Conradi syndrome: a clinical and genetic study.
Document Type
Academic Journal
Author
Lowry RB; Department of Medical Genetics, Alberta Children's Hospital and the University of Calgary, Canada. brian.lowry@calgaryhealthregion.ca; Innes AM; Bernier FP; McLeod DR; Greenberg CR; Chudley AE; Chodirker B; Marles SL; Crumley MJ; Loredo-Osti JC; Morgan K; Fujiwara TM
Source
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Subject
Language
English
ISSN
1552-4825
Abstract
The purpose of the study was to delineate the anomalies and the natural life history of persons with the Bowen-Conradi syndrome [Bowen and Conradi 1976: Birth Defects: Orig Artic Ser XII(6):101-108]. We ascertained 39 cases and personally examined almost all. For those who were not seen, their clinical record were scrutinized. Pedigree analysis of all 39 was done and kinship coefficients computed. The birth prevalence was estimated to be 1/355 live births.
(Copyright 2003 Wiley-Liss, Inc.)
(Copyright 2003 Wiley-Liss, Inc.)