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Abnormality of chromosome stability
- ... is associated with reversible G1/S phase arrest, chromosomal instability and prostate cancer. Mol Cancer. 2007 Jun 8; ... Weinberger DR, Berman KF. Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. J ...
- ... PubMed Central Castagnola P, Giaretti W. Mutant KRAS, chromosomal instability and prognosis in colorectal cancer. Biochim Biophys Acta. ...
- ... Melnick-Needles syndrome (described below). Frontometaphyseal dysplasia involves abnormalities in skeletal development, particularly involving the joints, and ...
- ... cause Warsaw breakage syndrome. This condition causes multiple abnormalities that may include impaired growth, distinctive facial features, ... problems in DNA maintenance lead to the specific abnormalities characteristic of Warsaw breakage syndrome. More About This ...
- ... hearing loss in affected males and females and abnormalities of the ovaries in affected females. The mutations ... gene mutations lead to hearing problems and ovarian abnormalities in affected individuals. More About This Health Condition ...
- ... characterized by distinctive facial features, intellectual disability, and abnormalities affecting other parts of the body.The KMT2D ... body's organs and tissues, resulting in the abnormalities of development and function characteristic of Kabuki syndrome. ...
- ... by slow growth before and after birth, skeletal abnormalities, and hormonal changes. IMAGe syndrome occurs only when ... to deletion of the imprinting center 2 on chromosome 11p. Eur J Hum Genet. 2013 ... S. Increased protein stability of CDKN1C causes a gain-of-function phenotype ...
- ... ADLD). This condition is characterized by nervous system abnormalities due to the loss of myelin, which is ...
- ... a shortage of red blood cells (anemia) and abnormalities in blood cells called megakaryocytes, which produce platelets, ...