Article
Growth pattern in Kabuki syndrome with a KMT2D mutation.
American journal of medical genetics. Part A - 1 Dec 2016
Schott Dina A, Blok Marinus J, Gerver Willem J M, Devriendt Koenraad, Zimmermann Luc J I, Stumpel Constance T R M
Abstract excerpt
Kabuki syndrome is a multiple congenital malformation syndrome with a spectrum of clinical features including short stature. Since there is no growth data on Kabuki syndrome patients with a proven KMT2D gene mutation, further research on growth and growth patterns is indicated. Data for this growth study on subjects with Kabuki syndrome were collected from referring clinicians. Subjects were eligible for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.