De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic faci...

Full description

Saved in:
Bibliographic Details
Published in:Hum Genome Var
Main Authors: Kondo, Yuto, Aoyama, Kohei, Suzuki, Hisato, Hattori, Ayako, Hori, Ikumi, Ito, Koichi, Yoshida, Aya, Koroki, Mari, Ueda, Kentaro, Kosaki, Kenjiro, Saitoh, Shinji
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2020
Subjects:
Data Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7261772/
https://ncbi.nlm.nih.gov/pubmed/32528716
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0107-1
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items