Search
for
Did you mean Autosomal Recessive?
Sort by
Research 30 of 1000+
- Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- 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
- Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families
- Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis
- Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
- 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
- A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
- Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Novel D323G mutation of <i>DSG4</i> gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
- Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
- 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
- An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
- 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
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
- Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study
- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report