dyskeratosis congenita การใช้

They have been implicated in some hereditary disorders, such as dyskeratosis congenita.
When she was a year old, Galena was diagnosed with dyskeratosis congenita of the HH variant.
Another example is the haploinsufficiency of telomerase reverse transcriptase which leads to anticipation in autosomal dominant dyskeratosis congenita.
These mutations are also autosomal recessive with three specific single-nucleotide polymorphisms being recognized which result in dyskeratosis congenita.
Dyskeratosis congenita is reticular skin pigmentation, nail degeneration, and leukoplakia on the mucous membranes associated with short telomeres.