Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Genetic testing and molecular biomarkers - 1 Apr 2020

Hussain Shabir, Umm-E-Kalsoom, Ullah Irfan, Liaqat Khurram, Nawaz Shoaib, Ahmad Wasim

Abstract excerpt

Background: Frontonasal dysplasia (FND) is a rare developmental disorder characterized by mild to severe changes in skull and brain structures. It is a phenotypically variable and heterogeneous disorder. This study was designed to provide a clinical and genetic analysis of FND in a consanguineous family of Pakistani origin. Methodology and Results: Affected individuals in the family showed characteristic features...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Consanguinity
Share to Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Heterozygote

Share to Homozygote

Share to Mutation, Missense

Share to Pakistan

Source

Identifiers

PMID: 32216639
DOI: 10.1089/gtmb.2019.0203

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family.PMID 32216639Read ↗

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.Semantic proximity Read ↗

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.Semantic proximity Read ↗

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.Semantic proximity Read ↗

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.Semantic proximity Read ↗

Mild nasal clefting may be predictive for ALX4 heterozygotes.Semantic proximity Read ↗

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.Semantic proximity Read ↗

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.Semantic proximity Read ↗

Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.Semantic proximity Read ↗

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.Semantic proximity Read ↗

ALX4 dysfunction disrupts craniofacial and epidermal development.Semantic proximity Read ↗

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.Semantic proximity Read ↗

Identifying patients with EVEN-plus syndrome using exome sequencing and clinical feature analysis: A case report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.