
Síndrome de Tatton-Brown-Rahman: Reporte de caso de variante en el gen DNTM3A no descrita previamente asociada al síndrome
Author(s) -
Fernanda Martin Merlez,
Catherine Díaz S.,
Magdalena Mira O.
Publication year - 2022
Publication title -
andes pediatrica
Language(s) - Spanish
Resource type - Journals
eISSN - 2452-6053
pISSN - 2452-6045
DOI - 10.32641/andespediatr.v93i4.4020
Subject(s) - humanities , medicine , philosophy
Tatton Brown Rahman Syndrome (TBRS) is a recently described overgrowth syndrome caused by variants in the DNMT3A gene. The description of its phenotype and the differences with its main differential diagnoses are still under development, with very few individuals of Latin American origin described to date.