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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2018-06-01
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| Series: | Dermatologica Sinica |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1027811717300617 |