Paper Details

Paper Title

Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.

Paper Journal Title

Am J Med Genet A

Paper Citation Count

Paper Publication Year

2021

Bio Mention

ALKBH8, ALKBH8 variant, AlkB family of dioxygenases, Alkylated DNA repair protein AlkB homolog 8, MRT71, MRT71 syndrome, Neurodevelopmental disorder, amino acid, anticodon loop, biallelic, developmental delay, dysmorphic features, final exon, intellectual developmental disorder, intellectual disability, neurodevelopmental disease, neurogenetic disease, nucleoside, tRNA, uridine, wobble nucleoside position

Mesh Descriptor

Author Name	Affiliation
Shalini N Jhangiani	Baylor College of Medicine
Zeynep Coban Akdemir	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Jennifer E Posey	Baylor College of Medicine
Maha S Zaki	National Research Centre
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine

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