Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome

Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome

BackgroundKBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.Methods a...

Full description

Saved in:
Bibliographic Details
Main Authors: Qing Shao, Qiang Jiang, Yuqi Luo, Yimei Meng, Guoyu Tian, Xiao Yin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
KBG syndrome
ANKRD11
frameshift variation
noonansyndrome
RRAS2
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1439905/full
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items