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Research 601–630 of 1000+
- Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- 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.
- AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
- Androgenetic alopecia: An autosomal dominant disorder
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- 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
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
- 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
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- 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
- Congenital hypotrichosis due to short anagen
- Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
- Atrichia With Papular Lesions
- Familial Nonmembranous Aplasia Cutis of the Scalp
- 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
- PSEUDOPELADE: AN INHERITED ALOPECIA
- Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
- Short anagen hair syndrome