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- Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
- 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
- The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
- Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
- Woolly hair generalizado: caso clínico e revisão da literatura
- Buschke-Ollendorff syndrome
- Loose Anagen Syndrome
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis
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