Total: 1 |
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PMID (PMCID) | ||
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25843205 |
MALE | |
Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. | ||
Bisserbe A, Tertian G, Buffet C, Turhan A, Lambotte O, Nasser G, Alvin P, Tardieu M, Riant F, Bergametti F, Tournier-Lasserve E, Denier C. Rev Neurol (Paris). 2015;171(5):445-9. |
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a history of intrauterine growth retardation, skeletal demineralization and osteopenia, bilateral exudative vitreo-retinopathy reminiscent of Coats disease, recurrent gastrointestinal hemorrhages secondary to watermelon stomach and variceal bleeding of the esophagus due to idiopathic portal hypertension and telangiectatic and angiodysplasic changes in the small intestine and colon, and anemia due to recurrent bleeding and bone marrow abnormalities. |