Article
Expanding the phenotypic spectrum associated with OPHN1 variants.
European journal of medical genetics - 1 Feb 2019
Schwartz Talia S, Wojcik Monica H, Pelletier Renee C, Edward Heather L, Picker Jonathan D, Holm Ingrid A, Towne Meghan C, Beggs Alan H, Agrawal Pankaj B
Abstract excerpt
Genomic sequencing has allowed for the characterization of new gene-to-disease relationships, as well as the identification of variants in established disease genes in patients who do not fit the classically-described phenotype. This is especially true in rare syndromes where the clinical spectrum is not fully known. After a lengthy and costly diagnostic odyssey, patients with atypical presentations may be left...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.