A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family

PL Lanvin, L Lebreton, E Lasseaux… - Clinical and …, 2023 - academic.oup.com
… and hard nails with very slow growth of toenails and fingernails. At least five genes are known
… The FZD gene family encodes frizzled (FZD) receptors, which act as receptors for the Wnt …

Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias

S Maier-Wohlfart, C Aicher, I Willershausen, N Peschel… - Genes, 2022 - mdpi.com
… SSPS displayed characteristic nail dystrophies (six males and … disorders, among which FZD6
(frizzled class receptor 6) and … disorders have not yet been identified, the increasing usage …

[PDF][PDF] Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias. Genes 2022, 13, 2119

S Maier-Wohlfart, C Aicher, I Willershausen, N Peschel… - 2022 - edinetwork.org
… SSPS displayed characteristic nail dystrophies (six males and … disorders, among which FZD6
(frizzled class receptor 6) and … disorders have not yet been identified, the increasing usage …

Molecular pathway-based classification of ectodermal dysplasias: first five-yearly update

N Peschel, JT Wright, MI Koster, AJ Clarke, G Tadini… - Genes, 2022 - mdpi.com
… , an X-chromosomal gene encoding the signaling protein … receptor of the Frizzled receptor
family transmits the biological … We are continuing this research that may allow an expansion of …

WNT signaling and bone: lessons from skeletal dysplasias and disorders

Y Huybrechts, G Mortier, E Boudin… - Frontiers in …, 2020 - frontiersin.org
… In addition to increasing the insights in the pathways regulating … LDL)-related receptor (LRP)5/6
and Frizzled (FZD). This activation … dysplasias caused by mutations in genes that encode

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT …

W Dufour, S Alawbathani, AS Jourdain, M Asif… - Genetics in …, 2022 - Elsevier
… The interaction between the WNT ligand and the Frizzled … After incubation with
increasing concentrations of the … cause autosomal recessive ectodermal dysplasia 9, hair/nail

Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation

M Bilal, A Hayat, M Umair, A Ullah… - Genetic Testing and …, 2020 - liebertpub.com
… The aim of this study was to identify the underlying cause of … surface receptors complexes
composed of frizzled (FZ) and … hair, lacrimal-duct abnormalities, nail dystrophy, dry skin, and …

[PDF][PDF] Search for Disease-Causing Variants in Families with Postaxial Polydactyly Using Whole Exome Sequencing.

P Iqbal - 2023 - dspace.qau.edu.pk
… Lastly, I extend a sincere acknowledgement to myself for … of the 7 transmembranes frizzled
(Fzd) receptor and the LRP5/6 co-… responsible variant for the autosomal recessive PAP-A was …

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

KY Chu, YL Wang, YR Chou, JT Chen… - Journal of Personalized …, 2021 - mdpi.com
… [20], and neural tube defects (NTDs) [21]. The discovery that heterozygous LRP6 loss-of-function
mutations can cause FTA not only expands the … More recently, recessive mutations of …

Developmental genomics of limb malformations: allelic series in association with gene dosage effects contribute to the clinical variability

R Duan, H Hijazi, EY Gulec, HK Eker, SR Costa… - Human Genetics and …, 2022 - cell.com
Genes acting on limb patterning are sensitive to a gene dosage effect and are often associated
with an allelic series. We extend an allele-specific gene … plane can cause congenital limb …