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 pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred.

Journal of dermatological science - 1 Oct 2017

Mohammadi-Asl Javad, Pourreza Mohammad Reza, Mohammadi Aliasgar, Eskandari Ameneh, Mozafar-Jalali Sima, Tabatabaiefar Mohammad Amin

Abstract excerpt

BACKGROUND: Nail disorder nonsyndromic congenital (NDNC) is a very rare clinically and genetically heterogeneous disease inherited both in recessive or dominant modes. FZD6 is a component of Wnt-FZD signaling pathway in which recessive loss-of-function variants in the corresponding genes could lead to nail anomalies. OBJECTIVE: A large multiplex family with NDNC was referred for genetic counselling. Thorough...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Frizzled Receptors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Counseling

Share to Inheritance Patterns

Share to Nail Diseases

Share to Rare Diseases

Share to Wnt Signaling Pathway

Source

Identifiers

PMID: 28545862
DOI: 10.1016/j.jdermsci.2017.04.017

Genes

FZD6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred.PMID 28545862Read ↗

FZD6 is a novel gene for human neural tube defects.Semantic proximity Read ↗

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.Semantic proximity Read ↗

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.Semantic proximity Read ↗

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.Semantic proximity Read ↗

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.Semantic proximity Read ↗

Genetics of human isolated hereditary nail disorders.Semantic proximity Read ↗

Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.Semantic proximity Read ↗

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Semantic proximity Read ↗

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.Semantic proximity Read ↗

Novel Dental Anomaly-associated Mutations in WNT10A Protein Binding Sites.Semantic proximity Read ↗

Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.Semantic proximity Read ↗

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.Semantic proximity Read ↗

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