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- Translational perspectives in HTRA1-associated disorders: biomarkers, gene therapy, and future directions
- Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
- Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
- Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
- Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism?
- A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
- Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
- Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
- An unusual presentation of X-linked adrenoleukodystrophy
- Congenital Atrichia: A Case Report
- Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
- A Newborn With Hair Loss
- Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
- P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap!
- 8242 A Case of Ayme Gripp Syndrome
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Two females with hair loss
- Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I