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A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

BACKGROUND: X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusively affects males and the estimated prevalence ranges from 1:2000–6000 in males...

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Detalles Bibliográficos
Autores principales:	Afzal, Sibtain, Ramzan, Khushnooda, Ullah, Sajjad, Wakil, Salma M., Jamal, Arshad, Basit, Sulman, Waqar, Ahmed Bilal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995215/ https://www.ncbi.nlm.nih.gov/pubmed/32005174 http://dx.doi.org/10.1186/s12881-020-0964-y

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