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Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report

We aimed to detect the pathogenic gene mutations in a patient with lamellar ichthyosis (LI). The genomic DNA of the patient was examined using high-throughput whole-exome sequencing to identify the causative mutations. Compound heterozygous mutations of c.1187G>T (p.Arg396Leu) and c.607C>T (p....

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Detalles Bibliográficos
Autores principales:	Zeng, Jing, Shan, Baihui, Guo, Lu, Lv, Sha, Li, Fuqiu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9188366/ https://www.ncbi.nlm.nih.gov/pubmed/35698621 http://dx.doi.org/10.2147/PGPM.S361350

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