Rare Diseases

Current bibliography for experts

"Misdiagnosis" search results...

NIEMANN-PICK

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

2022-09-16

This article reports a case of Niemann Pick disease type B with sea-blue histiocytes that was misdiagnosed as Budd-Chiari syndrome for three years.

GAUCHER

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case

2022-06-15

Misdiagnosis and diagnostic delay in metabolic diseases could cause irreversible organ damage and delay the start of specific therapy for these patients.

MPS

Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: An echocardiographic study

2021-08-09

A systematic descriptive study describing the echocardiographic features of valvular involvement and their evolution in adolescent and adult patients lacks of medical literature and this was the aim of our investigation.

XLH

Hiding in plain sight: Gene panel and genetic markers reveal 26-year undiagnosed tumor-induced osteomalacia of the rib

2020-12-24

This case study presents a 41-year-old female with FGF23-mediated hypophosphatemia, with a 26-year delay in TIO (tumor-induced osteomalacia) diagnosis and a concurrent misdiagnosis of X-linked hypophosphatemic rickets (XLH). The study emphasizes the importance of innovative methods for clinicians, such as gene panels, CISH, and RNA sequencing, in characterizing TIO and associated tumors in the form of many phenotypically similar diseases.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

8th Neuromuscular Diseases Congress

The 8th Neuromuscular Diseases Congress will be organized by the Neuromuscular Diseases Research Association between Sep...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...