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This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.

This study found that the novel anti-HER2 antibody RC48 demonstrated promising activity and manageable safety in patients with HER2-overexpressing, advanced gastric or gastroesophageal junction cancer after at least two prior chemotherapy lines.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.

A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.

In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.

This article discusses the evaluation of minimal residual disease in childhood acute lymphoblastic leukemia using molecular methods and reports no new findings.

This study found that reduced expression of CD200R1 on monocyte-derived macrophages in rheumatoid arthritis patients was significantly associated with higher disease severity and an imbalance in Th17/Treg cells.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

This study found that synchrotron radiation ECD imaging provides new insights into solid-state Finasteride by highlighting the significant role of anisotropy in local domains for chiroptical measurements.

This study reports a novel diagnostic method for latent circadian rhythm sleep-wake disorder using circadian gene oscillations from hair follicle cells to improve sleep disorder differentiation and potential therapeutic intervention.

This case study describes a 5-year-old boy with vitamin D dependent rickets type 2, motor delays, and alopecia totalis who showed improved biochemical parameters with calcium and calcitriol treatment.

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

This study found that strontium ranelate promotes cartilage regeneration in rats by enhancing chondrogenic differentiation of bone mesenchymal stem cells while inhibiting the Wnt/β-catenin signaling pathway.

In this study, researchers concluded that hereditary 1,25-dihydroxyvitamin D-resistant rickets, characterized by specific mutations in the vitamin D receptor gene, may resolve metabolic abnormalities with age, though associated alopecia remains.

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.

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.

This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.

In this study, researchers identified specific clinical and dermoscopic features of chronic radiation-induced dermatitis in 32 head and neck cancer patients treated with radiotherapy, and determined age, gender, and prior surgery as independent risk factors for developing this skin toxicity.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

This study reports that a clinical prognostic model based on immune-related genes improved survival prediction for patients with clear cell renal cell carcinoma, also identifying potential drugs targeting the gene DOCK8.

This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.

This case report describes a 54-year-old woman with familial dyskeratotic comedones who experienced slight improvement in her skin lesions after three months of treatment with topical retinoids and urea cream.

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.

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.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.

This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.

The researchers reported that disrupting ATRA signaling by deleting RDHE genes in the hair follicle led to altered hair follicle cycles, composition, and gene expression, indicating RDHEs' role in hair follicle signaling coordination.