A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.

Autor: Khan, S., Ansar, M., Khan, A. K., Shah, K., Muhammad, N., Shahzad, S., Nickerson, D. A., Bamshad, M. J., Santos‐Cortez, R. L. P., Leal, S. M., Ahmad, W.
Předmět:
Zdroj: British Journal of Dermatology; Feb2018, Vol. 178 Issue 2, p556-558, 3p
Abstrakt: The article discusses a study on a Pakistani family with individuals affected of segregating fingernail dysplasia in an autosomal recessive manner. It mentions affected family members displayed a severe form of onychodystrophy with mild erythema and swelling of the proximal and lateral nail folds. it also mentions differences in phenotype severity among affected individuals suggest the possible role of factors such as heterogeneity in genetic background, modifier genes or environmental factors.
Databáze: Complementary Index