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This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.

This study identified more than 100 genetic loci associated with hair color variation in Europeans, explaining a significant portion of the trait's heritability and advancing understanding of hair pigmentation.

This study suggests that minoxidil may improve hypotrichosis in patients with ARWH due to LIPH variants, but a possible genetic factor could affect its efficacy within families.

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.

A specific gene mutation causes complete hair loss in an Irish Traveller family.

This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.

This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.

This study analyzed the cornified envelope of epidermal proteins, finding keratins dominate, which may help explain the minimal impact of deleting genes for single envelope components in congenital ichthyosis.

This report describes two children with congenital hypotrichosis and found their short hair is due to a shortened anagen phase, with the condition resolving spontaneously during puberty.

This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.

This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.

This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.

This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.

This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.

This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.

This report reviews familial cases of aplasia cutis of the scalp, noting large irregular defects at the vertex or anterior along the sagittal suture in six families.

The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.

In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.

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.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.