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Research 151–180 of 1000+
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Congenital hypotrichosis due to short anagen
- Alopecia in a 19-Month-Old Boy
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Coexistence of Woolly Hair and Monilethrix: A Cases Study
- Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
- The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs
- Genetics of Inherited Ichthyoses and Related Diseases
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Congenital Atrichia: A Case Report
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding
- Current Genetics in Hair Diseases
- Familial Dyskeratotic Comedones: A Case Report and Literature Review
- Monilethrix: A rare hereditary condition
- Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
- APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- A retrospective study on the characteristics of androgenetic alopecia among Asian races in the National Skin Centre, a tertiary dermatological referral centre in Singapore.
- Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
- Woolly Hair in Two Siblings
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa
- When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
- Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
- Keratin disorders: from gene to therapy
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
- Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population