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This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.

In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.

In this study, exome sequencing revealed that two brothers with ichthyosis, born to consanguineous parents, had NIPAL4 autosomal recessive congenital ichthyosis, while the older brother's blindness resulted from separate mutations in the peroxidasin gene, which were also found in an unaffected sister.

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.

This review examines the role and significance of next-generation sequencing technologies in forensic identification and other forensic applications, but reports no new findings.

This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.

This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.

PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.

This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.

This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.

This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.

This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

This study found that in patients with genetic generalized epilepsies, certain gene variants were linked to differences in valproic acid treatment outcomes, including a higher likelihood of treatment failure, varying serum drug concentrations, and specific side effects like weight gain and hair loss.

This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

In this study, researchers found that basal cell carcinomas with common Hedgehog signaling mutations may require additional mutations to hyperactivate downstream signaling and progress beyond dormancy.

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.