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This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.

This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.

This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.

This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.

This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.

This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.

This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.

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 paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.

This study found that certain genetic variants, specifically CYB5R1 and IL1A, may be linked to different types of acne scarring, with CYB5R1 associated with atrophic scarring and IL1A with fibrotic scarring, indicating a potential polygenic nature of acne scarring.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

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 presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

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.

This case report describes a 16-month-old girl with atypical acrodermatitis enteropathica who showed marked improvement after zinc supplementation despite normal serum zinc levels.

This article discusses the potential benefits of GcMAF and oral MAF, developed by "Saisei Mirai", for cancer and other conditions, but reports no new clinical results.

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.

This review discusses hypersensitivity reactions to anticoagulants like ASA and heparins, highlighting their rare but potentially life-threatening nature, and emphasizes the need for meticulous allergy testing to find safe alternatives.

This review examines the cognitive effects of medications for lower urinary tract symptoms and indicates that muscarinic antagonists, particularly oral oxybutynin, pose the highest risk for cognitive impairment.

This case report identifies two specific mutations in the WRN gene in a 40-year-old female with Werner syndrome, highlighting the need for awareness of its early manifestations and treatment options.