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Extreme obesity and leptin receptor deficiency. A case report.
(Academia Nacional de Medicina venezolana., 2022)
Estudio molecular de pacientes colombianos afectados por enanismo esencial
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2017)
Microcephalic primordial dwarfism syndromes are a group of rare monogenic diseases that are characterized primarily by extreme low stature of prenatal onset and severe microcephaly. In patients who participated in the ...