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Research 31–60 of 1000+
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits.
- Woolly Hair in Two Siblings
- Biology and Genetics of Hair
- Congenital Atrichia: A Case Report
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
- The inheritance of common baldness: Two B or not two B ?
- Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report