Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body. These patients are born as collodion babies and may also exhibit additional features like erythema, ectropion,...

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Detalles Bibliográficos
Autores principales: Alallasi, Sami Raja, Kokandi, Amal A., Banagnapali, Babajan, Shaik, Noor Ahmad, Al-Shehri, Bandar Ali, Alrayes, Nuha Mohammad, Al-Aama, Jumana Yousuf, Jelani, Musharraf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393366/
https://www.ncbi.nlm.nih.gov/pubmed/30847336
http://dx.doi.org/10.3389/fped.2019.00044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393366/
https://www.ncbi.nlm.nih.gov/pubmed/30847336
http://dx.doi.org/10.3389/fped.2019.00044

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