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This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.

This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.

This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.

This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.

This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.

This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.

This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

This study found that human skin melanocytes with low mutation burdens are smaller, less dendritic, and exhibit stem-like features, often residing in UV-protected hair follicles, suggesting their role in replenishing sun-damaged epidermis.

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.

This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.

This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

LIPH mutations cause woolly hair in some Chinese people.

This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.

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.

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This study reports that two mouse models of scarring alopecia exhibit similar patterns of hair loss progression despite histological differences in inflammatory cell localization and MHC class I expression.

This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.