Marie Unna Hereditary Hypotrichosis (MUHH; OMIM 146550) is a rare autosomal dominant hair loss disorder characterized by coarse, wiry, twisted hair developed in early childhood and followed by the development of alopecia. This disease was firstly described in 1925 by Marie Unna in a seven-generation of North German family [
- Unna M.
Uber hypotrichosis congenita hereditaria.
Dermatol Wochenschr. 1925; 81: 1167-1178
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- Uber hypotrichosis congenita hereditaria.Dermatol Wochenschr. 1925; 81: 1167-1178
- The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.Am J Hum Genet. 1999; 65: 413-419
- Identification of a novel locus for Marie Unna hereditary hypotrichosis to a 17.5 cM interval at 1p21.1–1q21.3.J Invest Dermatol. 2005; 125: 711-714
- Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.J Invest Dermatol. 2002; 118: 887-890
- A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia.J Invest Dermatol. 1999; 113: 281-283
- Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3.Br J Dermatol. 2004; 150: 837-842
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.Nat Genet. 2009; 41: 228-233
- Translational pathophysiology: a novel molecular mechanism of human disease.Blood. 2000; 95: 3280-3288
- Downstream control of upstream open reading frames.Genes Dev. 2006; 20: 915-921
- Translation matters: protein synthesis defects in inherited disease.Nat Rev Genet. 2007; 8: 711-723
Published online: July 12, 2010
Received: February 17, 2009
© 2009 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.