A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants Article Swipe

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Cecilia Mancini , Andrea Zonta , Giovanni Botta , Andrea Breda Klobus , Stefano Valbonesi , Barbara Pasini , Elisa Giorgio , E. Viora , Alfredo Brusco , Alessandro Brussino ·

YOU? · · 2018 · Open Access · · DOI: https://doi.org/10.1016/j.ejmg.2018.11.012

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Exome Sequencing

Grey's Anatomy Season 18

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Microphthalmia Horseshoe kidney Exome sequencing Hypoplasia Anatomy Syndactyly Polymicrogyria Medicine Pathology Synostosis Proband Biology Phenotype Genetics Mutation Neuroscience Epilepsy Gene Kidney

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Type: article
Language: en
Landing Page: https://doi.org/10.1016/j.ejmg.2018.11.012
OA Status: green
Cited By: 8
References: 18
Related Works: 10
OpenAlex ID: https://openalex.org/W2900883304

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DOI: https://doi.org/10.1016/j.ejmg.2018.11.012

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Title: A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants

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Type: article

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Language: en

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Publication year: 2018

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Publication date: 2018-11-13

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Authors: Cecilia Mancini, Andrea Zonta, Giovanni Botta, Andrea Breda Klobus, Stefano Valbonesi, Barbara Pasini, Elisa Giorgio, E. Viora, Alfredo Brusco, Alessandro Brussino

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Landing page: https://doi.org/10.1016/j.ejmg.2018.11.012

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OA URL: https://www.sciencedirect.com/science/article/pii/S1769721218303987?via=ihub

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Concepts: Microphthalmia, Horseshoe kidney, Exome sequencing, Hypoplasia, Anatomy, Syndactyly, Polymicrogyria, Medicine, Pathology, Synostosis, Proband, Biology, Phenotype, Genetics, Mutation, Neuroscience, Epilepsy, Gene, Kidney

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Cited by: 8

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