Novel Mutation in a Child with Goltz Syndrome |
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| Authors: | Seema Kapoor Vidyabrata Ghosh John A. McGrath Atul Mohan Kochar Harit Kapoor Reetika Malik |
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| Affiliation: | (1) Division of Genetics, Department of Pediatrics, MaulanaAzad Medical College, New Delhi, 110002, India;(2) Department of Pediatrics, Maulana Azad Medical College, New Delhi, India;(3) Department of Dermatology,St John’s Institute of Dermatology, King’s College London, Guy’s Campus, London, UK;(4) Department of Skin and VD, Maulana Azad Medical College, New Delhi, India;(5) Theni Government Medical College, Theni, Tamil Nadu, India |
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| 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. |
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