Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Overview of attention for article published in Brain, August 2020

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RT @GeneDx: GeneDx-affiliated paper led by Bobby Ng from the Sanford Burnham Institute characterizes the clinical and biochemical features…

GeneDx-affiliated paper led by Bobby Ng from the Sanford Burnham Institute characterizes the clinical and biochemical features of 29 patients with de novo variants in the ALG13 gene. Check out the full study here ➡️ https://t.co/lNntrYMGCk. https://t.co/L…

RT @Brain1878: Schneeberger et al. show that biallelic mutations in MADD (MAPK activating death domain) cause a phenotypic spectrum ranging…

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