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Research 30 of 205
- Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
- Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
- 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
- A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
- Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice
- BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the <i>AIRE</i> gene mutation treated with ruxolitinib
- Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
- Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
- Characterization of<i>CDH3</i>-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
- DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
- <i>WNT10A</i> , dermatology and dentistry
- Abstracts
- Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
- The urine as a diagnostic key for a homozygous EGFR mutation
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Roles of tumor suppressors in regulating tumor-associated inflammation