Camptodactyly-Arthropathy-Coxa vara-Pericarditis (CACP) syndrome is a rare genetic disorder characterized by autosomal recessive inheritance (MIM 208250). In the present study, we report the results ...

Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of ...

Genetic analysis has been successful in identifying causative mutations for individual cardiovascular risk factors. Success has been more limited in mapping susceptibility genes for clusters of ...

Meier–Gorlin syndrome (MGS) (MIM 224690) is a form of primordial dwarfism, characterized by microtia, short stature, and absent or hypoplastic patellae. Furthermore, pulmonary emphysema, feeding ...

The gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness, has been discovered by researchers. "Little ...

Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS) —an ultra-rare disease that affects neuronal and cognitive development— generate truncated, non-functional proteins that tend to ...

Please provide your email address to receive an email when new articles are posted on . Individuals who smoked had more genetic mutations associated with myelodysplastic syndrome than nonsmokers.

Advances in DNA sequencing have uncovered a rare syndrome which is caused by variations in the gene SATB1. The study, co-authored by academics from Oxford Brookes University (UK), University of ...

A genetic disorder is a condition that occurs as a result of a mutation to DNA. There are several different genetic disorders. Most cells within the body contain the molecule DNA. This molecule ...

Noncancer endpoints in BRCA1/2 carriers after risk-reducing salpingo-oophorectomy. What size tumors should we detect as early-stage lung cancers in CT screening? Stage-size relationship in long-term ...