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Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants.

著者 Davis PE , Filip-Dhima R , Sideridis G , Peters JM , Au KS , Northrup H , Bebin EM , Wu JY , Krueger D , Sahin M ,
Pediatrics.2017 Nov 03 ; ():.
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Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC.
PMID: 29101226 [PubMed - as supplied by publisher]
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