Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene. Here we report a Hungarian pedigree affected by the lamellar ichthyosis clinical form of the ARCI1 phenotype. Direc...
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Wolters Kluwer Medknow Publications,
2018-06-01T00:00:00Z.
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