Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference17 articles.
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2. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts;Polvi;Am. J. Hum. Genet.,2012
3. A familial syndrome with Coats' reaction retinal angiomas, hair and nail defects and intracranial calcification;Tolmie;Eye,1988
4. Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument;Crow;Neuropediatrics,2003
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