Article
Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.
American journal of medical genetics. Part A - 1 Nov 2015
Holder J Lloyd, Cheung Sau-Wai
Abstract excerpt
Individuals with deletions of chromosome 5q12-13 have rarely been reported and have a range of phenotypes including postnatal growth restriction, intellectual disability, hyperactivity, and ocular abnormalities. Most individuals reported have large deletions or complex rearrangements which have made identifying genes responsible for these phenotypes challenging. Here we report an individual with a chromosome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
