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Brain small vessel disease 3
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. Novel mutations in three families confirm a major role of COL4A1 in ...
- ... gene have been found to cause COL4A1-related brain small-vessel disease. This condition is part of a group of ... and symptoms involving fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by stroke and eye abnormalities. Most ...
- ... diagnosis. Neurosurg Clin N Am. 2010 Jul;21(3):543-51. doi: 10.1016/j.nec.2010.03.007. Citation on PubMed
- ... heterotopia may have other features including more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, stomach problems, or lung disease. Periventricular heterotopia may also occur in association with ...
- ... as the pinky finger or little toe.The brain abnormalities characteristic of MPPH syndrome ... appears to be a rare disease. About 60 affected individuals have been described in ...
- ... which are stiff and inflexible, get stuck in small blood vessels. These episodes ... of sickle cell disease is high blood pressure in the blood vessels ...
- ... Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med. 2009 Apr 23;360( ... I, Ikeuchi T, Nishizawa M, Onodera O. Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-beta1 ...
- ... the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).In ...
- ... MCAP), which is characterized by overgrowth of the brain (megalencephaly) and abnormalities caused by enlargement of small blood vessels in the skin (capillary malformations). The mutations that ...
- ... of disorders that affect the heart and blood vessels (cardiovascular diseases), including heart attack and stroke.There are at least three slightly different versions (alleles) of the APOE gene. ...