Bi‐allelic variants in MDH2 : Expanding the clinical phenotype-Reference-Cited by-同舟云学术

Bi‐allelic variants in MDH2 : Expanding the clinical phenotype

Published:2021-11-22 Issue:2 Volume:101 Page:260-264
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Ticci Chiara¹,Nesti Claudia²,Rubegni Anna²,Doccini Stefano²^ORCID,Baldacci Jacopo²,Dal Canto Flavio²,Ragni Luca³,Cordelli Duccio M.⁴,Donati Maria Alice¹,Santorelli Filippo M.²^ORCID

Affiliation:

1. Metabolic Disease Unit Meyer Children's Hospital Florence Italy

2. IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit Pisa Italy

3. Paediatric Cardiology and ACHD Unit S. Orsola Hospital Bologna Italy

4. IRCCS Istituto delle Scienze Neurologiche di Bologna UOC Neuropsichiatria dell'età Pediatrica Bologna Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14088

Reference14 articles.

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3. Clinical and biochemical heterogeneity associated with fumarase deficiency

4. Revisiting the TCA cycle: signaling to tumor formation

5. Mutations in MDH2 , Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

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