Associated Papers
Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.
Bolzon A et al.
Clinical Case Reports, 2026
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Bourgon N et al.
European Journal of Human Genetics : Ejhg, 2022
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
Elhossini RM et al.
Congenital Anomalies, 2022
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M et al.
Journal of Medical Genetics, 2021
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
Bostwick B et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2016
Identification of key residues and regions important for porcupine-mediated Wnt acylation.
Rios-Esteves J et al.
The Journal of Biological Chemistry, 2014
A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.
Maupin KA et al.
Bone Research, 2013
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.
Fernandes PH et al.
Genetic Testing and Molecular Biomarkers, 2010
Novel PORCN mutations in focal dermal hypoplasia.
Froyen G et al.
Clinical Genetics, 2009
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
Maas SM et al.
Journal of Medical Genetics, 2009
PORCN gene mutations and the protean nature of focal dermal hypoplasia.
Clements SE et al.
The British Journal of Dermatology, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality.
Bornholdt D et al.
Human Mutation, 2009
Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.
Leoyklang P et al.
Clinical Genetics, 2008
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.
Alkindi S et al.
Pediatric Dermatology, 0