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This study reported the discovery of large-scale haplotypes (cenhaps) in human centromere regions, revealing deep genetic diversity, including introgressed Neanderthal and ancient African lineages.

This study found that relatives of women with symptoms of oligo-amenorrhoea and hirsutism experienced higher rates of hirsutism, menstrual disorders, infertility, childlessness, diabetes, and hypertension compared to relatives of symptomless women.

This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.

This review discusses Robertsonian chromosomal translocations and their prevalence in the population, highlighting their association with infertility, and reports no new clinical results.

Male infertility and genitourinary birth defects are often linked to genetic issues.

This study found that human centromeric regions exhibit large-scale haplotypes with significant diversity, including entire Neanderthal haplotypes, which may affect chromosome transmission.

This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.

In this study, researchers identified four gene variants that may contribute to androgenic alopecia and vitiligo, proposing a novel di-genic inheritance model that could help guide genomic approaches for personalized treatment and early diagnosis.

This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.

This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.

This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

This case report describes a 28-year-old man with widespread pigmented basal cell carcinomas and recurrent infections that were challenging to control, associated with nevus comedonicus and a rudimentary toe.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.

This case report describes a 6-year-old boy with Bloom syndrome characterized by distinct facial skin changes, delayed development, and a high frequency of sister chromatid exchanges.

This case report observed that while a 4-year-old boy with vitamin D-dependent rickets type II showed biochemical and bone improvement after vitamin D and calcium treatment, his alopecia did not improve.

This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition.

This case report describes a young female with a rare combination of 46,XX gonadal dysgenesis and MRKH syndrome, highlighting associated infertility challenges.

This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.

This report documents the first adult onset case of Satoyoshi syndrome in South America, highlighting possible improvement with immunosuppressive treatment using corticosteroids and azathioprine.

Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.

This study reported dramatic improvements in five collodion baby patients with lamellar ichthyosis treated with oral retinoic acid, noting hair loss as the sole adverse effect, emphasizing the treatment's promising efficacy for physicians.

This report presents the first documented case of CARASIL in an Arabic patient and notes unique magnetic resonance spectroscopy findings compared to prior cases.

This report describes a case of isolated congenital atrichia combined with nevus flammeus.

In this study, all 26 patients with epidermolysis bullosa were found to have extensive dental caries, with various dental and oral complications varying by EB type, due in part to inadequate oral care and associated physical limitations.

In this study, an 8-year-old girl with dermatomyositis and extensive calcinosis showed complete clearance of calcinosis and good disease control after treatment with a combination of corticosteroids, methotrexate, hydroxychloroquine, pamidronate, and intravenous immunoglobulin.

In this case report, a 37-year-old patient with APECED showed significant clinical improvement, including hair regrowth and resolution of skin issues, after 11 months of treatment with ruxolitinib, highlighting the potential of JAK inhibitors in managing this complex autoimmune disease.