Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.

This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.

This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.

In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.

This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.

This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.

This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.

This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.

This study found a significant discordance between clinical symptoms and dermatoscopic signs with histopathological inflammation in patients with LPP and AFF, affecting diagnostic and therapeutic approaches.

This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.

This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.

Certain genetic variants and pathways are linked to hair loss.

This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.

This study reports that treating a feline with progressive pruritus, alopecia, and FIV infection with imidacloprid and moxidectin resulted in remission of clinical signs and elimination of Demodex cati mites, as confirmed by parasitological examination and genetic sequencing.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

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 major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.

This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.

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.

In this study of Zhexi Angora rabbits, researchers found that the fine-wool group exhibited lower fiber diameters and a higher hair follicle density than the coarse-wool group, and they identified key candidate genes potentially regulating wool quality through RNA-seq and genome resequencing techniques.

In this study, the researchers found that rare genetic variants make a minor contribution to male-pattern hair loss risk, identifying five significant gene associations, including novel genes, and noting a shared basis with monogenic hair loss disorders.

In this study, the researchers analyzed skin samples from Dun Mongolian horses to uncover molecular pathways linked to the "Bider" marking, identifying differential gene expression and several pigment-related signaling pathways that may play key roles in its formation.

This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.

In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.