title: Focal Dermal Hypoplasia with aDe novoMutation p.E300* ofPORCNGene in a Male Infant.
abstract: Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygoticde novomutation p.E300* in exon 10 ofPORCNgene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.
authors.affiliation: Department of Pediatrics, K S Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
authors.forename: Swathi Sunil
authors.initials: SS
authors.lastname: Rao
authors.affiliation: Department of Pediatrics, K S Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
authors.forename: Rathika D
authors.initials: RD
authors.lastname: Shenoy
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
authors.forename: Smrithi
authors.initials: S
authors.lastname: Salian
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
keywords: Blaschko lines; ectrodactyly; mosaicism