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This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.

This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

This case report describes a rare autosomal dominant hair shaft disorder, monilethrix, observed in three consecutive generations of a family, with gradual improvement noted with age.

This report describes several cases of pili annulati in children, highlighting its genetic predisposition and distinctive "zebra stripe" hair pattern, but notes no effective treatment is available.

This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.

This report describes a case study of a 23-year-old female exhibiting multiple trichodiscomas, a type of benign tumor of the hair follicular discs common in familial cases and potentially linked to Birt-Hogg-Dube syndrome, though genetic testing was not performed due to financial constraints.

This case report describes an eight-year-old Kashmiri boy diagnosed with monilethrix, a rare genetic hair disorder, characterized by a beaded appearance and fragility of the hair shaft.

This study identified the FGF5:c.578C>T variant as linked to long hair in Akitas in Japan and suggests that genetic testing could help improve their breeding practices and welfare.

This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.

This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

This case report highlights an 11-year-old girl with dermatopathia pigmentosa reticularis, identifying associated Salzmann's nodular degeneration of the cornea and emphasizing the need for a multidisciplinary management approach.

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.

This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

This report describes two Saudi brothers with dermatopathia pigmentosa reticularis who exhibited normal hair shafts despite their condition.

This study found that the p.E402K mutation in the KRT86 gene is a hotspot in Chinese patients with monilethrix, and treatment with 5% topical minoxidil significantly improved hair density and quality.

This article reviews the clinical features of dermatopathia pigmentosa reticularis, highlighting its characteristic triad of symptoms, but provides no new research results.

This article reports on a family with six members diagnosed with monilethrix, highlighting varying degrees of alopecia linked to this rare hair shaft defect.

This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.

This study found that a keratin mutation may cause diffuse partial woolly hair associated with loose anagen hair syndrome in some families, but other genetic factors could play a role in different cases.

This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.

This review highlights the significant role of next-generation sequencing in uncovering the genetic basis of hair disorders, identifying 28 nonsyndromic conditions linked to specific genes.

This case report describes a new family with autosomal recessive hypotrichosis simplex with woolly hair, suggesting the disorder may be underreported due to misdiagnosis.

This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.

This review highlights the ongoing need for novel treatments for autosomal recessive congenital ichthyoses, suggesting that drug repositioning, utilizing existing medications or biologics, could provide more affordable and effective options for managing this lifelong skin condition.

This study investigated the inheritance patterns of PCOS and found that 33% of participants had metabolic syndrome, which was more prevalent in first-generation relatives.