Article
Holt-Oram syndrome: a clinical genetic study.
Journal of medical genetics - 1 Apr 1996
Newbury-Ecob R A, Leanage R, Raeburn J A, Young I D
Abstract excerpt
A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal defects affected the...
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