Pseudophosphatases and pseudokinases are increasingly viewed as integral elements of
signaling pathways, and there is mounting evidence that they have frequently retained the …

Immune thrombocytopenia (ITP) is an autoimmune disorder characterized by increased
bleeding tendency and thrombocytopenia. In fact, the precise pathogenesis of this disease is …

The inherited bone marrow failure syndromes (IBMFS) are a set of clinically related yet
heterogeneous disorders in which at least one hematopoietic cell lineage is significantly …

Objective Charcot‐Marie‐Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are
characterized by recessive inheritance, early onset, severe course, slowed nerve …

Immune thrombocytopenic purpura (ITP) is a commonly acquired autoimmune bleeding
disorder in children. MicroRNAs (miRNAs) are small RNAs which are found in cells and …

In the dairy industry, mammary system traits are economically important for dairy animals,
and it is important to explain their fundamental genetic architecture in Holstein cattle. Good …

Genomic sequencing (GS) is now well embedded in clinical practice. However, guidelines
issued by professional bodies disagree about whether unsolicited findings (UF)—ie, disease …

Charcot-Marie-Tooth Disorder Type 4B (CMT4B) is a demyelinating peripheral neuropathy
caused by mutations in myotubularin-related (MTMR) proteins 2, 13, or 5 (CMT4B1/2/3) …

Abstract Charcot–Marie–Tooth disease type 4B2 with early-onset glaucoma (CMT4B2,
OMIM 604563) is a genetically-heterogeneous childhood-onset neuromuscular disorder …

Hereditary blood diseases are prevalent in the Kingdom of Saudi Arabia. The majority of
these blood disorders are sickle cell disease and β-thalassemia with variants located on the …