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Research 541–570 of 1000+
- The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
- Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
- Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
- Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
- Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
- Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
- Interventions for preventing the progression of autosomal dominant polycystic kidney disease
- Heterozygous <i>KRT32</i> variant is responsible for autosomal dominant loose anagen hair syndrome
- An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
- A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
- [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
- A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix
- Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
- A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
- A Small Deletion Hotspot in the Type II Keratin Gene<i>mK6irs1/Krt2-6g</i>on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (<i>Ca</i>) Mutation
- Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
- Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
- A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
- Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
- Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis
- Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
- Monilethrix: A rare hereditary condition
- Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
- A new type of pachyonychia congenita.
- Masquerading of trichotillomania in a family with monilethrix
- Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
- Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
- Monilethrix
- Spangled hair in siblings
- Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia