Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in ...

DiGeorge Syndrome Market Outlook 2025-2035: The DiGeorge syndrome markets size is demonstrating a promising trajectory, with a projected CAGR of 4.86% across the 7 major markets between 2025 and 2035.

Parry-Romberg Syndrome (PRS) is an acquired, progressive disorder characterized by hemifacial atrophy, where the soft tissues, and in some cases the underlying bones, on one side of the face undergo ...

The differential diagnosis of platelet disorders in 22q11.2DS is critical to optimizing patient care and outcomes. The diagnosis and management of thrombocytopenia in 22q11.2 deletion syndrome ...

What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...

DiGeorge综合征（又称22q11.2缺失综合征）是一种由染色体异常引起的遗传性疾病。它涉及到22号染色体的微缺失，导致患者在多个系统中出现不同的 ...

1 Department of Emergency Medicine, The First Hospital of Jilin University, Changchun, Jilin, China 2 Department of Nuclear Medicine, The First Hospital of Jilin University, Changchun, Jilin, China ...

This study addresses fundamental questions surrounding otitis media effusion in Down syndrome, identifying DYRK1A as a key gene involved in the condition. The findings are compelling, highlighting ...