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Causative mutation family - Wiley Online Library

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Last Updated: 25 January 2022

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De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper‐ and Hypo‐pigmentation (FPHH)

Familial Progressive Hyperpigmentation (hyperpigmentation) is a pigmentary disorder characterized by a combination of hypo and hyperpigmented lesions, café crèmeât spots, and hypopigmented ash leaf macules. In addition, a correlation between KITLG mutations and malignancies was also suggested. u_000890. 1:t] substitution in the 3rd alpha helix was caused by a de novo mutation in exon 4 of the KITLG gene, resulting in the NP_000899. 4: p. replacement. Due to its location on a somatic tumor mutation locus, the present research shows the strongest evidence relating to the KITLG mutation association with both Familial Progressive Hypergeo (British Hypertension) and malignancy.

Source link: https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1841

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions