Ichthyosis prematurity syndrome: a case report and review of known mutations
| Autor: | Alan D. Irvine, Deirdre Devaney, Patricia Lenane, Judith Fischer, Clare Kiely |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Population Dermatology Infant Premature Diseases Kidney medicine OMIM : Online Mendelian Inheritance in Man Humans Ichthyosis prematurity syndrome education Aniridia Skin Genetics education.field_of_study business.industry Autosomal recessive ichthyosis Infant Newborn Ichthyosis medicine.disease Fatty Acid Transport Proteins Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Mutation Female Psychomotor Disorders business |
| Zdroj: | Pediatric dermatology. 31(4) |
| ISSN: | 1525-1470 |
| Popis: | Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described. |
| Databáze: | OpenAIRE |
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