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Journal Articles

GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Milana Trubnykova, Jeny Bazalar Montoya, Jorge La Serna-Infantes, Flor Vásquez Sotomayor, María del Carmen Castro Mujica, Hugo Hernán Abarca Barriga
Journal: Molecular Syndromology
Mol Syndromol (2019) 10 (4): 186–194.
https://doi.org/10.1159/000499209
Published Online: 16 April 2019
...Milana Trubnykova; Jeny Bazalar Montoya; Jorge La Serna-Infantes; Flor Vásquez Sotomayor; María del Carmen Castro Mujica; Hugo Hernán Abarca Barriga Pathogenic variants of the GATAD2B gene (1q21.3) are linked to intellectual disability autosomal dominant type 18 (MRD18; MIM 615074), characterized...
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