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Title: Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome
Authors: Ruiz, JC. ×
Legius, E.
Cuppens, A.
Moens, Pierre
Marynen, Peter
Cassiman, JJ. #
Issue Date: 1994
Publisher: Munksgaard
Series Title: Clinical Genetics vol:46 pages:257-259
Abstract: Holt-Oram syndrome is an autosomal dominant disorder with congenital heart defects and skeletal malformations of the upper extremities. A patient with a deletion of 14q23-24 and Holt-Oram syndrome has been described. In this report, however, genetic linkage to the 14q23-24 region is excluded in a multigeneration family with five available individuals affected with Holt-Oram syndrome. Familial Holt-Oram syndrome might be different from the syndrome with the 14q23-24 deletion.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Orthopaedics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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