Associated Papers
Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.
Zhang J et al.
Bmc Pediatrics, 2025
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.
Heinz L et al.
The British Journal of Dermatology, 2019
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
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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeII_
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.
Wang X et al.
Nature Genetics, 2007
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