13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
50 citations
,
March 2001 in “Clinics in Dermatology” Genes and hormones cause hair loss, with four genes contributing equally.
June 2023 in “International Journal of Research in Medical Sciences” This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.
8 citations
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December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
89 citations
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September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
5 citations
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September 1986 in “Pediatric Dermatology” This study reported a previously undescribed form of hereditary hypotrichosis in a family, characterized by childhood-onset hair loss, morphea, and probable autosomal dominant inheritance.
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.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
August 2023 in “Frontiers in Endocrinology” This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.
2 citations
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September 2020 in “Schweizer Archiv für Tierheilkunde” This study found that Swiss cattle exhibiting rat-tail syndrome are heterozygous for genetic variants linked to pigmentation and color dilution, likely due to Holstein introgression in the Simmental breed.
August 2025 in “Cosmetics” This review discusses the possible link between cosmeceuticals and frontal fibrosing alopecia but reports no conclusive findings; the authors stress further research on environmental triggers is needed.
41 citations
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November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
16 citations
,
September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
August 2025 in “American Journal of Dermatopathology” In this study, researchers presented cases of cellular neurothekeoma in three male family members with early-onset in infancy, suggesting a potential genetic component and inheritance pattern, which deviates from the typical presentation seen mostly in women between 20–30 years.
8 citations
,
March 2023 in “British Journal of Dermatology” 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.
15 citations
,
August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
May 2022 in “Journal of the Egyptian Women's Dermatologic Society (Print)” This article discusses the clinical features and treatment options for common types of hair loss in women and reports no new clinical results.
1 citations
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September 2023 in “Genes” This study found no significant difference in CUX1 core promoter methylation levels between different lambskin patterns in Hu sheep, suggesting other mechanisms influence CUX1 expression related to hair follicle development.
December 2023 in “Indian Journal of Endocrinology and Metabolism” In this case report from People's College of Medical Sciences, a 20-year-old man initially misdiagnosed with Addison's disease was ultimately found to have strongyloidiasis, with his symptoms and weight loss improving after antihelminthic treatment.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
December 2025 in “Frontiers in Medicine” 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.
November 2025 in “Journal of Medicine and Health Technology” In this study, researchers found that none of the participants were color blind and reported varying lengths of index and ring fingers among them, exploring a possible link between these finger length ratios and sex-influenced gene expression.
17 citations
,
September 2022 in “Genes & Genomics” In this study, researchers identified specific long non-coding RNAs involved in feather development that do not follow traditional genetic inheritance patterns in chickens.
55 citations
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November 2018 in “American journal of human genetics” 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.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
20 citations
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June 2012 in “British Journal of Dermatology” This study discusses the proteomic profile associated with hair damage but does not report new experimental findings.