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. 2020 May 16;8(7):e1289. doi: 10.1002/mgg3.1289

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© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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A‒C, Clinical photographs of index case at 6 years of age. Frontal view showing regional abdominal fat distribution (BMI > 99 centile), short neck, and facial features (A); Characteristic hands with stubby fingers (B); Brain magnetic resonance imaging (MRI) sagittal T2 image showing corpus callosum hypoplasia (C). D, Overview of the 14q12q13 deleted region and cytoband track in our case compared with the other patients reported in literature: delineation of the third Region of Overlap (RO3); GeneBank reference sequence for OMIM gene involved in the deleted region for which this data is known: NPAS3(NG_013036.2), CFL2(NG_012740.1), PSMA6(NG_011703.2), NFKBIA(NG_007571.1), RALGAPA1(NG_051667.1)