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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease microcephalic osteodysplastic primordial dwarfism type ii
Comorbidity C0007766|cranial aneurysm
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PubMedID- 26231886 Identification of two novel critical mutations in pcnt gene resulting in microcephalic osteodysplastic primordial dwarfism type ii associated with multiple intracranial aneurysms.

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