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Research 691–720 of 1000+
- Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- 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
- Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
- Novel D323G mutation of <i>DSG4</i> gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
- Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study
- Faculty Opinions recommendation of Association of topical minoxidil with autosomal recessive woolly hair/hypotrichosis caused by LIPH pathogenic variants.
- Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Enanthem in Patients With COVID-19 and Skin Rash
- 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
- A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
- New familial association between ocular coloboma and loose anagen syndrome
- Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
- 4 Vitamin D resistance
- Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
- Siberian cats help in solving part of the mystery surrounding golden cats
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature