A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
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| Title: | A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype? |
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| Authors: | Mora-Roldan GA; Research Unit, Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico, Mexico City, Mexico., Galaviz-Hernandez C; Academia De Genómica, Instituto Politécnico Nacional-CIIDIR Durango, Durango, Mexico., Hiebert-Froese J; Clinica Medica Sur del Carmen, Durango, Mexico., Hernandez A; Institute of Cellular Physiology, Department of Cognitive Neuroscience, National Autonomous University of Mexico, Mexico City, Mexico.; National Laboratory of Channelopathies, National Autonomous University of Mexico, Mexico City, Mexico., Montes L; Research Unit, Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Duran-Pasten ML; National Laboratory of Channelopathies, National Autonomous University of Mexico, Mexico City, Mexico., Gazarian K; Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico, Mexico City, Mexico., Zenteno JC; Research Unit, Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 1972-1978. Date of Electronic Publication: 2022 Mar 11. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62723 |
