Article
Novel copy number variants and major limb reduction malformation: Report of three cases.
American journal of medical genetics. Part A - 1 May 2016
Shamseldin Hanan E, Anazi Shams, Wakil Salma M, Faqeih Eissa, El Khashab Heba Y, Salih Mustafa A, Al-Qattan Mohammad M, Hashem Mais, Alsedairy Haifa, Alkuraya Fowzan S
Abstract excerpt
Limb reduction malformations are highly heterogeneous in their clinical presentation and so, predicting the underlying mutation on a clinical basis can be challenging. Molecular karyotyping is a powerful genomic tool that has quickly become the mainstay for the study of children with malformation syndromes. We describe three patients with major limb reduction anomalies in whom pathogenic copy number variants were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.