Potocki-Lupski syndrome is a condition that results from having an extra copy of a small piece of chromosome 17 in each cell. A different condition, known as Smith-Magenis syndrome, results when a ...

A mutation is a change in the sequence of an organism's DNA. What causes a mutation? Mutations can be caused by high-energy sources such as radiation or by chemicals in the environment. They can also ...

The hereditary motor and sensory neuropathies (HMSNs) are a clinically heterogeneous group of peripheral neuropathies, characterized by slowly progressive weakness and atrophy of the distal limb ...

Esotropia and exotropia could have shared genetic risk factors based on findings that genetif duplications on chromosomes were risk factors for the diseases. Genetic duplications in the second, fourth ...

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's. The Parkinson's disease 2 (PARK2) ...

Patients with multiple CALMs w/wo skinfold freckling and no other typical NF1 associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas). The DNA-based ...

Understanding the specific mutations that contribute to different forms of cancer is critical to improving diagnosis and treatment. But limitations in DNA sequencing technology make it difficult to ...

The human body is a miracle of nature, and in this article, Insider Monkey brings you the list of 10 uncommon genetic mutations in humans. Genetic mutation is the alteration of DNA pattern whereby ...

Extensive single Watson-Crick base pair mutations can occur in addition to duplication or deletion of an entire group of genes on chromosomal region 17p11.2. Potocki-Lupski syndrome is a condition ...

Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. The NF1-only by NGS ...