title: Novel mutation in a child with Goltz syndrome.
abstract: Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2 + 1G > A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.
authors: Division of Genetics, Department of Pediatrics, MaulanaAzad Medical College, New Delhi 110002, India. drseemakapoor@gmail.com
authors: Seema
authors: S
authors: Kapoor
authors: Vidyabrata
authors: V
authors: Ghosh
authors: John A
authors: JA
authors: McGrath
authors: Atul Mohan
authors: AM
authors: Kochar
authors: Harit
authors: H
authors: Kapoor
authors: Reetika
authors: R
authors: Malik
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics*; D006801:Humans; D009154:Mutation