Article
New intragenic rearrangements in non-Finnish mulibrey nanism.
American journal of medical genetics. Part A - 1 Oct 2017
Jobic Florence, Morin Gilles, Vincent-Delorme Catherine, Cadet Estelle, Cabry Rosalie, Mathieu-Dramard Michèle, Copin Henri, Rochette Jacques, Jedraszak Guillaume
Abstract excerpt
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
