Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant-Reference-Cited by-同舟云学术

Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant

Author:

Srivastava Siddharth¹,Gubbels Cynthia S.²³,Dies Kira¹,Fulton Anne⁴,Yu Timothy²³,Sahin Mustafa¹

Affiliation:

1. Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

2. Division of Genetics & Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

3. Broad Institute of MIT and Harvard, Cambridge, MA, USA

4. Department of Ophthalmology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

Funder

National Institutes of Health

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

Reference15 articles.

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