6 citations
,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
May 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
19 citations
,
September 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
7 citations
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November 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.