Disease: Marie Unna congenital hypotrichosis
- A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family
- A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
- A novel loci of the HR gene in Marie - Unna hereditary hypotrichosis using whole-exome sequencing
- A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
- Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
- Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)
- Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
- Guess what! Hypotrichosis congenita of Marie Unna: comment
- Hereditary congenital hypotrichosis, Marie Unna type
- Hereditary hypotrichosis congenita: Marie Unna type
- Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
- Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis
- Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis
- Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis
- Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis
- Increased expression of Dkk1 by HR is associated with alteration of hair cycle in hairpoor mice
- Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis
- Marie Unna congenital hypotrichosis: clinical description, histopathology, scanning electron microscopy of a previously unreported large pedigree
- Marie Unna hereditary hypotrichosis
- Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
- Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review
- Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report
- Marie-Unna congenital hereditary hypotrichosis
- Marie-Unna hereditary hypotrichosis: case report and review of the literature
- Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family
- Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready?
- Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis
- Pili torti et canaliculi in ectodermal dysplasia
- Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3
- The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing
- Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes
- Two females with hair loss
- Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance