Noonan’s syndrome
DOI:
https://doi.org/10.13112/pc.715Ključne riječi:
NOONAN SYNDROME, MOLECULAR BIOLOGY, DIAGNOSIS, DIFFERENTIAL, INFANT, NEWBORNSažetak
We present a patient with Noonan’s syndrome. Besides typical phenotypic characteristics and most commonly associated cardiac malformation, and pulmonary valve dysplasia with stenosis, molecular analysis identified a heterozygous change of the SOS1 gene: exon 10:c.1297G→A (p.E433K). The patient was treated surgically at the age of 4 months, requiring no cardiologic therapy.
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