Article
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
American journal of medical genetics. Part A - 1 Jan 2012
Kevelam Sietske H G, van Harssel Jeske J T, van der Zwaag Bert, Smeets Hubertus J M, Paulussen Aimee D C, Lichtenbelt Klaske D
Abstract excerpt
Loss-of-function mutations of GLI2 are associated with features at the mild end of the holoprosencephaly spectrum, including abnormal pituitary gland formation and/or function, and craniofacial abnormalities. In addition patients may have branchial arch anomalies and polydactyly. Large, microscopically visible, interstitial deletions spanning 2q14.2 have been reported in patients with multiple congenital...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.