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A specific mutation in PA-PLA1α causes abnormal hair growth.

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

This case report describes a rare instance of Olmsted syndrome with hypotrichosis in a 5-year-old boy, noting mild improvement in symptoms following treatment with oral acitretin and other interventions.

This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.

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

Mutations in the DSG4 gene cause specific hair and scalp issues.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

This study found that knocking down P-cadherin expression in cultured human hair follicles recreates the hair abnormalities seen in patients with hypotrichosis with juvenile macular dystrophy.

In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.

This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

This review discusses insights into the role of lipase H in controlling hair form and texture, emphasizing genetic mutations linked to autosomal recessive woolly hair/hypotrichosis, and reports no new experimental results.

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

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 review discusses androgenic alopecia and related hair disorders, focusing on their pathogenesis and treatment strategies, and reports no new clinical findings.

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.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.

This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.

This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.

This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.

The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.