Ankrd11 Gene | List of Frontiers open access articles

Case Report

Published on 17 Sep 2021

Case Report: Two Newly Diagnosed Patients With KBG Syndrome—Two Different Molecular Changes

in Genetics of Common and Rare Diseases

Katarzyna Wojciechowska
Joanna Nurzyńska-Flak
Borys Styka
Magdalena Kacprzak
Monika Lejman

Frontiers in Pediatrics

doi 10.3389/fped.2021.649043

15,494 views
2 citations

Case Report

Published on 11 Nov 2020

Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review

in Genetics of Common and Rare Diseases

Su Jin Kim
Aram Yang
Ji Sun Park
Dae Gyu Kwon
Jeong-Seop Lee
Young Se Kwon
Ji Eun Lee

Frontiers in Genetics

doi 10.3389/fgene.2020.579805

7,400 views
14 citations

Case Report

Published on 12 Jun 2025

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review

in Genetics of Common and Rare Diseases

Jie Gao
Ruiqin Wang
Zhen Pan
Ruolan Hu
Mingyan Jiang
Jinrong Li

Frontiers in Pediatrics

doi 10.3389/fped.2025.1565261

2,352 views
1 citation

Case Report

Published on 03 Jan 2025

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

in Genetics of Common and Rare Diseases

Qing Shao
Qiang Jiang
Yuqi Luo
Yimei Meng
Guoyu Tian
Xiao Yin

Frontiers in Genetics

doi 10.3389/fgene.2024.1439905

5,842 views

Original Research

Published on 24 Jul 2020

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

in Neurogenetics

Milena Crippa
Ilaria Bestetti
Silvia Maitz
Karin Weiss
Alice Spano
Maura Masciadri
Sarah Smithson
Lidia Larizza
Karen Low
Lior Cohen

Frontiers in Neurology

doi 10.3389/fneur.2020.00631

20,293 views
22 citations

Original Research

Published on 29 Apr 2021

The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development

in Cell Growth and Division

Daniela Marta Roth
Pranidhi Baddam
Haiming Lin
Marta Vidal-García
Jose David Aponte
Sarah-Thea De Souza
Devyn Godziuk
Adrianne Eve Scovil Watson
Tim Footz
Nathan F. Schachter

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2021.645386

10,245 views
27 citations

Case Report

Published on 28 Oct 2025

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review

in Genetics of Common and Rare Diseases

Yuqian Wang
Xin Peng
Jing Zhu
Ning Zou
Xiaotong Yu
Liu Yang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1690056

1,302 views

Articles

Case Report: Two Newly Diagnosed Patients With KBG Syndrome—Two Different Molecular Changes

Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review

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

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review