Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

• Main Authors: Adrienn Sulák (Author), Kornélia Tripolszki (Author), Katalin Farkas (Author), Márta Széll (Author), Nikoletta Nagy (Author)
• פורמט: ספר
• יצא לאור: Wolters Kluwer Medknow Publications, 2018-06-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...