7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference29 articles.
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3. CAPS (mammalian UNC-31) protein localizes to membranes involved in dense-core vesicle exocytosis;Berwin;Neuron,1998
4. Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature;Chen;Taiwan. J. Obstet. Gynecol.,2015
5. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder;Christian;Biol. Psychiatry,2008
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1. Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome;Molecular Cytogenetics;2022-03-26
2. Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved;Global Medical Genetics;2021-06-14
3. 2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype;Clinical Case Reports;2021-06
4. Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature;Molecular Syndromology;2021
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