No abstract available
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Adolescent
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Adult
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Animals
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Base Sequence
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Cerebellum / metabolism
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Child
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Child, Preschool
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DNA / chemistry
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DNA / genetics
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DNA Mutational Analysis
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Eye Abnormalities
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Face / abnormalities
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Female
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Frameshift Mutation
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France
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Genotype
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Humans
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In Situ Hybridization
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Intellectual Disability / pathology*
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Japan
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Male
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Membrane Proteins / genetics*
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Mice
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Microcephaly / pathology*
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Mutation*
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Mutation, Missense
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Oman
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Pedigree
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Phenotype
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Saudi Arabia
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Sequence Deletion
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Syndrome
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Vesicular Transport Proteins
Substances
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Membrane Proteins
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VPS13B protein, human
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Vesicular Transport Proteins
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DNA