Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report | BMC Medical Genetics | Full Text
Frontiers | The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development
Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature
ANKRD11 Gene - GeneCards | ANR11 Protein | ANR11 Antibody
ANKRD11 variants: KBG syndrome and beyond - Parenti - 2021 - Clinical Genetics - Wiley Online Library
IJMS | Free Full-Text | Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
A) Electropherograms of the patient 1 and his parents. A de novo... | Download Scientific Diagram
The KBGS flowchart. The figure summarizes the molecular diagnostic... | Download Scientific Diagram
ANKRD11 Gene - GeneCards | ANR11 Protein | ANR11 Antibody
IJMS | Free Full-Text | Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
Frontiers | Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations | European Journal of Human Genetics
Gene: ANKRD11 (ENSG00000167522) - Summary - Homo_sapiens - Ensembl genome browser 109
ANKRD11 Gene - GeneCards | ANR11 Protein | ANR11 Antibody
Molecular characterization of the ANKRD11 intragenic duplication. (a)... | Download Scientific Diagram
Frontiers | SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
Some of the published mutations in ANKRD11, most of which are loss of... | Download Scientific Diagram
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases | European Journal of Human Genetics
Severity of intelligence disability (ID) and short stature (SS) in... | Download Scientific Diagram
ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway - ScienceDirect
KBG syndrome: Common and uncommon clinical features based on 31 new patients - Gnazzo - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
ANKRD11 Gene - GeneCards | ANR11 Protein | ANR11 Antibody
What causes Cornelia de Lange Syndrome - CdLS Foundation UK and Ireland
Genes | Free Full-Text | Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving
IJMS | Free Full-Text | Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms | European Journal of Human Genetics
Autism gene guides early neuron development | Spectrum | Autism Research News
