A woman developed 12 tumors — seven benign and five cancerous — before her 40th birthday. Medical researchers recently discovered why she's so prone to the abnormal growths: She carries a set of ...

—Classifying myelodysplastic syndrome and secondary acute myeloid leukemia by genetic mutations rather than strictly by blast count may allow more patients to be eligible for AML and MDS clinical ...

Correction to: European Journal of Human Genetics (2009) 17, 187–194; doi:10.1038/ejhg.2008.147; published online 13 August 2008 Since the publication of the above ...

Harlequin ichthyosis (HI) is a severe genetic skin disorder characterized by thick white, brown, or dark brown patches on the skin covering a newborn's entire body. HI has a low incidence of 1 per 300 ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Figure 3. Docking of ADNP_Glu931Glyfs12 to the PTB protein. (A) The results of docking ADNP_Glu931Glyfs12 (light orange) to the PTB protein (PDB code 3DXC, navy blue) in the 934-941 amino acid region ...

An international team led by Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease. Subscribe to our newsletter for the ...