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Research 91–120 of 1000+
- Acne-Associated Syndromes
- Disorders of pigmentation in infants and children
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Familial congenital generalized hypertrichosis
- P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
- A new type of pachyonychia congenita.
- Congenital hypotrichosis due to short anagen
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Woolly Hair in Two Siblings
- Congenital Atrichia: A Case Report
- Keratin disorders: from gene to therapy
- Biology and Genetics of Hair
- Is the Loose Anagen Hair Syndrome a Keratin Disorder?
- Current Genetics in Hair Diseases
- APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
- Clinical Snippets
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- Corneodesmosin: Structure, Function and Involvement in Pathophysiology
- Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
- Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
- ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- A newborn presenting with congenital blistering