Mutations in PERP Cause Dominant and Recessive Keratoderma
نویسندگان
چکیده
منابع مشابه
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
NR2E3, a photoreceptor-specific nuclear receptor (PNR), represses cone-specific genes and activates several rod-specific genes. In humans, mutations in NR2E3 have been associated with the recessively-inherited enhanced short-wavelength sensitive S-cone syndrome (ESCS) and, recently, with autosomal dominant (ad) retinitis pigmentosa (RP) (adRP). In the present work, we describe two additional fa...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2019
ISSN: 0022-202X
DOI: 10.1016/j.jid.2018.08.026