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Research 30 of 113
- Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
- Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
- Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
- Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
- Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the <i>LIPH</i> gene at c.742C > A and c.614A > G: The first Japanese case
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- Prevalent founder mutation c.736T>A of <i>LIPH</i> in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i>
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
- Topical minoxidil improves congenital hypotrichosis caused by <i>LIPH</i> mutations
- Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors
- Molecular Genetics of Alopecias
- Woolly Antics between the Sheaths
- Congenital hair loss disorders: Rare, but not too rare
- Current Genetics in Hair Diseases
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
- Biology and Genetics of Hair
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- Genetics of Alopecia
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations