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research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis

6 citations , January 2013 in “The Journal of Dermatology”

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

research Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report

May 2018 in “European Journal of Dermatology”

The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.

research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

115 citations , October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.