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Craneosinostosis unilateral asociada a mutación del gen ZIC1: reporte de un caso
Fahad K Alsharef1, Khulood K Alraddadi2, Tariq Aljared1,2
1College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Sheikh Jaber Al-Sabah Road, Khashm Al An District, PO Box 3660, Riyadh 11481, Riyadh Province, Saudi Arabia.
Una rara mutación del gen de la proteína del dedo de zinc del cerebelo 1 (ZIC1) causó craneosinostosis coronal unilateral en un bebé. La intervención quirúrgica temprana mejoró los resultados cosméticos y el progreso del desarrollo, lo que subraya la importancia de las pruebas genéticas.
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