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10.1002/ajmg.a.37230

http://scihub22266oqcxt.onion/10.1002/ajmg.a.37230
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C4639746!4639746!26198278
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suck abstract from ncbi


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pmid26198278      Am+J+Med+Genet+A 2015 ; 167 (11): 2742-7
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  • Atypical Presentation of Moyamoya Disease in an Infant with a de novo RNF213 Variant #MMPMID26198278
  • Harel T; Posey JE; Graham BH; Walkiewicz M; Yang Y; Lalani SR; Belmont JW
  • Am J Med Genet A 2015[Nov]; 167 (11): 2742-7 PMID26198278show ga
  • Variants in RNF213 lead to susceptibility to moyamoya disease, a rare cerebral angiopathy characterized by bilateral stenosis of the internal carotid arteries and development of a compensatory collateral network. We describe a 3-month-old female with seizures, arterial narrowing involving the internal carotid and intracranial arteries and inferior abdominal aorta, and persistently elevated transaminases. Whole exome sequencing demonstrated a novel de novo variant in RNF213, securing a molecular diagnosis and directing appropriate intervention. This report underscores the role of whole exome sequencing in cases for which a complex and atypical presentation may mask diagnosis. Furthermore, the early and severe presentation in our patient, in conjunction with a novel de novo RNF213 variant, suggests that specific variants in RNF213 may lead to a Mendelian form of disease rather than simply conferring susceptibility to multifactorial disease.
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