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Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.
J Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFHigh frequency of melanoma in /.
Theranostics
December 2024
Central Laboratory, The First Affiliated Hospital of Hebei North University, 075000, Zhangjiakou, Hebei, China.
Melanoma, the deadliest form of skin cancer characterized by high therapy resistance, has undergone extensive investigation through the utilization of BRAF-driven melanoma animal models. However, there exists a paucity of animal models for the rare hereditary melanoma resulting from germline mutations. Here, employing CRISPR/Cas9 technology, we generated on a knockout background to model human germline mutation-induced hereditary melanoma.
View Article and Find Full Text PDF[Analysis of clinical, gene mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis in the Chinese population].
Zhonghua Gan Zang Bing Za Zhi
November 2024
Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing100050, China National Clinical Research Center for Digestive Diseases, Beijing100050, China.
To analyze the clinical, genetic mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis (HH) in China. Peripheral blood samples and clinical data of patients with primary iron overload were collected through the China Registry of Genetic/Metabolic Liver Disease from June 2015 to November 2023. HH-related genes were detected by Sanger sequencing.
View Article and Find Full Text PDFCharacterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.
Ophthalmol Sci
September 2024
Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
Article Synopsis
- - The study investigates the retinal phenotype in two siblings with new genetic variants linked to hereditary spastic paraplegia type 56 (HSP 56), which resemble type 2 macular telangiectasis (MacTel).
- - Five family members underwent extensive ophthalmic evaluations and genetic testing, revealing that the affected siblings exhibited specific retinal anomalies, including loss of retinal transparency and abnormal pigment distribution.
- - The findings suggest a potential connection between the observed retinal issues and the genetic variants, indicating a shared pathway in the development of both MacTel and the hereditary condition.
Iron Skin Staining: A Rare but Permanent Complication Following IV Iron Infusion.
Acta Med Port
January 2025
Internal Medicine Department. Unidade Local de Saúde de Coimbra. Coimbra; Faculdade de Medicina. Universidade de Coimbra. Coimbra; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN). Coimbra. Portugal.
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