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- Title
Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.
- Authors
Esperón‐Moldes, Uxía Saraiva; Ginarte, Manuel; Santamariña, Marta; Rodríguez‐Lage, Belinda; Rodríguez‐Pazos, Laura; Vega, Ana; Esperón-Moldes, Uxía Saraiva; Rodríguez-Lage, Belinda; Rodríguez-Pazos, Laura
- Abstract
The article discusses ichthyosis prematurity syndrome caused by mutation in heterozygous fatty acid transport protein in two sisters born in Spain. Topics include study of mild ichthyosis with follicular hyperkeratosis, capillary electrophoresis analysis and genetic analysis of congenital ichthyosis related genes.
- Subjects
ICHTHYOSIS; PALMOPLANTAR keratoderma; SISTERS
- Publication
Acta Paediatrica, 2019, Vol 108, Issue 4, p763
- ISSN
0803-5253
- Publication type
journal article
- DOI
10.1111/apa.14694