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

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Bibliographic Details
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
Description
ISSN:1750-1172
DOI:10.1186/s13023-021-01924-z