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Revista Médica Sinergia

2023, Number 03

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Revista Médica Sinergia 2023; 8 (03)

Pediatric patient with early-onset poikiloderma

Fiallos BEJ, Toapanta YIG, Villacrés GSC

Language: Spanish
References: 15
Page:
PDF size: 285.19 Kb.


ABSTRACT

We present the case of a 9-year-old female patient, with a history of prematurity, and growth stubbornness, presenting with clinical picture of early-onset poikiloderma with different clinical features including short stature, sparse eyelashes or eyebrows, with suspected Bloom syndrome vs Rothmund-Thomson syndrome, which was addressed by studying the BLM and RECQL4 genes.


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