Article
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
Journal of genetics - 1 Dec 2016
Alexandrou Angelos, Papaevripidou Ioannis, Tsangaras Kyriakos, Alexandrou Ioanna, Tryfonidis Marios, Christophidou-Anastasiadou Violetta, Zamba-Papanicolaou Eleni, Koumbaris George, Neocleous Vassos, Phylactou Leonidas A, Skordis Nicos, Tanteles George A, Sismani Carolina
Abstract excerpt
Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. Here, we present the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.