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This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.

This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

This study reports that treatment with X-rays or procarbazine induced dose-dependent mutations in melanocytes in mouse hair follicles, showing similar mutation rates to previous methods.

This article describes a case of dyschromatosis universalis in a young Saudi Arabian girl, discussing similar cases reported outside the Far East where the condition was initially identified, but provides no new research findings.

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 letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

This study found that inherited color dilution in Rex rabbit hair follicles is associated with DNA methylation changes, contributing to understanding the epigenetic regulation of rabbit pigmentation.

This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.

This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.

This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.

This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.

In this study on Drosophila wings, researchers identified 435 genes with significant expression changes during wing hair morphogenesis, and found new phenotypes for 9 genes through functional validation.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This study found that the ACE gene I/D polymorphism may serve as a genetic susceptibility indicator for androgenetic alopecia in an Egyptian patient group.

This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.

This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.

This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.

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

In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.

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