Home to a culturally heterogeneous population, India is also a melting pot of genetic
diversity. The population architecture characterized by multiple endogamous groups with …

Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a
general population compared to other diseases. Limited clinical information and a lack of …

Progressive pseudorheumatoid dysplasia (PPRD), a rare autosomal recessive syndrome, is
a type of skeletal dysplasia associated with pain, stiffness, swelling of multiple joints, and the …

Progressive pseudorheumatoid dysplasia (PPRD) is a genetic bone disorder characterised
by the progressive degeneration of articular cartilage that leads to pain, stiffness and joint …

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Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by
predominant involvement of articular cartilage with progressive joint stiffness. Here we report …

Rare diseases are often misdiagnosed or receive a delayed diagnosis; thus, unfortunately,
affected individuals may not receive optimal medical management. Here, we report a case of …

Abstract Background Rare diseases (RDs) affect less than 5/10,000 people in Europe and
fewer than 200,000 individuals in the United States. In rheumatology, RDs are …

Background Progressive pseudorheumatoid dysplasia is a rare skeletal dysplasia mainly
caused by abnormal autosomal recessive inheritance. Although the main function of …

Background As one kind of osteochondrodysplasia, progressive pseudorheumatoid
dysplasia (PPD) is also known as spondyloepiphyseal dysplasia tarda with progressive …