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Revista Médica Sinergia

2023, Número 03

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Revista Médica Sinergia 2023; 8 (03)


Paciente pediátrico con poiquilodermia de inicio temprano

Fiallos BEJ, Toapanta YIG, Villacrés GSC

Idioma: Español
Referencias bibliográficas: 15
Paginas:
Archivo PDF: 285.19 Kb.


RESUMEN

Se presenta el caso de una paciente femenina de 9 años de edad, con antecedentes de prematuridad, y retazo del crecimiento, que cursa con cuadro clínico de poiquilodermia de inicio temprano con diferentes características clínicas que incluyen talla baja, pestañas o cejas escasas, con sospecha de síndrome de Bloom vs síndrome de Rothmund-Thomson, el cual se abordó mediante el estudio de los genes BLM y RECQL4.


REFERENCIAS (EN ESTE ARTÍCULO)

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