Browsing by Author "Khan, Arif"
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An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report
Alhalak, Rouzy; Al-Haideri, Mohammed H.; Khan, Arif (2023)Abstract: Cardiofaciocutaneous syndrome is a rare, sporadic disease caused by germline mutations in the Ras/MAPK (mitogen-activated protein kinase) pathway. Patients usually present with craniofacial anomalies, cardiac ...