Associated Papers
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia.
Al Kaissi A et al.
Children (basel, Switzerland), 2023
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.
Frisk S et al.
Clinical Case Reports, 2018
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia.
Ramirez-Botero AF et al.
Congenital Anomalies, 2016
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.
Lasocki AL et al.
The Australasian Journal of Dermatology, 2011
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
The association of split hand foot malformation (SHFM) and congenital heart defects.
Elliott AM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2008
Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.
Clements SE et al.
Journal of Dermatological Science, 2008
Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant.
Rao SS et al.
Indian Journal of Dermatology, 0
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