Varaico: Literature-Extracted Genetic Variants

Gene:ALX4
Variant:p.R265*
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ALX4

NM_021926.4:p.R265*

Associated Papers

A rare homozygous ALX4 mutation in a Bangladeshi girl with frontonasal dysplasia type-2 (FND2).

Goswami B et al.

Heliyon, 2024

Comprehensive analysis of the expression profiles of mRNA, lncRNA, circRNA, and miRNA in primary hair follicles of coarse sheep fetal skin.

Tian D et al.

Bmc Genomics, 2024

ALX-Related Frontonasal Dysplasias: Clinical Characteristics and Surgical Management.

Vargel I et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022

A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family.

Hussain S et al.

Genetic Testing and Molecular Biomarkers, 2020

Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature.

Gabor L et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2017

Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.

Meloni VA et al.

Clinical Genetics, 2015

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.

Kariminejad A et al.

American Journal of Medical Genetics. Part A, 2014

Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.

Matsumaru D et al.

European Journal of Human Genetics : Ejhg, 2014

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.

Bertola DR et al.

American Journal of Medical Genetics. Part A, 2013

ALX4 dysfunction disrupts craniofacial and epidermal development.

Kayserili H et al.

Human Molecular Genetics, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."