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Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.

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Title: Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.
Authors: Mendoza-Caamal EC; Clinical Area, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Barajas-Olmos F; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico., Mirzaeicheshmeh E; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico., Ilizaliturri-Flores I; SEPI-UPIIH, National Polytechnic Institute, Pachuca, Hidalgo, Mexico., Aguilar-Salinas CA; Metabolic Diseases Research Unit, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; Department of Endocrinology and Metabolism, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; Direction of Nutrition, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; School of Medicine and Health Sciences, Monterrey Institute of Technology, Mexico City, Mexico., Gómez-Velasco DV; Metabolic Diseases Research Unit, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; Department of Endocrinology and Metabolism, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; Direction of Nutrition, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; School of Medicine and Health Sciences, Monterrey Institute of Technology, Mexico City, Mexico., Cicerón-Arellano I; Clinical Area, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Reséndiz-Rodríguez A; Clinical Area, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Martínez-Hernández A; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico., Contreras-Cubas C; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico., Islas-Andrade S; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico., Zerrweck C; Integral Clinic of Surgery for Obesity and Metabolic Diseases, General Hospital Tláhuac, SS, Mexico City, Mexico., García-Ortiz H; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico., Orozco L; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico. lorozco@inmegen.gob.mx.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jun 30; Vol. 16 (1), pp. 291. Date of Electronic Publication: 2021 Jun 30.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.
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  Data: <searchLink fieldCode="AU" term="%22Mendoza-Caamal+EC%22">Mendoza-Caamal EC</searchLink>; Clinical Area, National Institute of Genomic Medicine, SS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Barajas-Olmos+F%22">Barajas-Olmos F</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Mirzaeicheshmeh+E%22">Mirzaeicheshmeh E</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Ilizaliturri-Flores+I%22">Ilizaliturri-Flores I</searchLink>; SEPI-UPIIH, National Polytechnic Institute, Pachuca, Hidalgo, Mexico.<br /><searchLink fieldCode="AU" term="%22Aguilar-Salinas+CA%22">Aguilar-Salinas CA</searchLink>; Metabolic Diseases Research Unit, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; Department of Endocrinology and Metabolism, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; Direction of Nutrition, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; School of Medicine and Health Sciences, Monterrey Institute of Technology, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Gómez-Velasco+DV%22">Gómez-Velasco DV</searchLink>; Metabolic Diseases Research Unit, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; Department of Endocrinology and Metabolism, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; Direction of Nutrition, National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico.; School of Medicine and Health Sciences, Monterrey Institute of Technology, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Cicerón-Arellano+I%22">Cicerón-Arellano I</searchLink>; Clinical Area, National Institute of Genomic Medicine, SS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Reséndiz-Rodríguez+A%22">Reséndiz-Rodríguez A</searchLink>; Clinical Area, National Institute of Genomic Medicine, SS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Martínez-Hernández+A%22">Martínez-Hernández A</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Contreras-Cubas+C%22">Contreras-Cubas C</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Islas-Andrade+S%22">Islas-Andrade S</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Zerrweck+C%22">Zerrweck C</searchLink>; Integral Clinic of Surgery for Obesity and Metabolic Diseases, General Hospital Tláhuac, SS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22García-Ortiz+H%22">García-Ortiz H</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Orozco+L%22">Orozco L</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS. Periférico Sur 4809, Colonia Arenal Tepepan, Alcaldía Tlalpan, C.P. 14610, Mexico City, Mexico. lorozco@inmegen.gob.mx.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2021 Jun 30; Vol. 16 (1), pp. 291. <i>Date of Electronic Publication: </i>2021 Jun 30.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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