Paper Details

Paper Title

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

Paper Journal Title

Am J Med Genet A

Paper Citation Count

Paper Publication Year

2022

Bio Mention

CAPN3, G666R, Human, MPV, MUSK, NAV2, WWS, Wieacker-Wolff syndrome, ZC4H2, brain malformation, c, c.1781C, c.1781C>T, c.1996G, c.1996G>A, c.259C>G, c.595A>C, cerebellar dysgenesis, congenital myasthenia, disease genes, dysmorphism, gene, genes, human, hypotonia, infant, limb-girdle muscular dystrophy, mouse, neurodevelopmental disorder, novel disease gene, p.A594V, p.G666R, p.L87V, p.N199H, patients, retinoic

Mesh Descriptor

Author Name	Affiliation
Ghada M H Abdel-Salam	Clinical Genetics Department, National Research Centre
Zeynep Coban Akdemir	Baylor College of Medicine
Zeynep Coban Akdemir	School of Public Health, The University of Texas Health Science Center at Houston
Shalini N Jhangiani	Baylor College of Medicine
Shalini N Jhangiani	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
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
James R Lupski	Baylor College of Medicine

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Dataset	Description	Source Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link

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