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KMID : 0648420080130010117
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Journal of Korean Society of Pediatric Endocrinology
2008 Volume.13 No. 1 p.117 ~ p.121
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Familial Noonan Syndrome Confirmed by PTPN11 Gene Test
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Kim You-Suk
Lee Seung-Tae
Ki Chang-Seok
Park Mi-Jung
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Abstract
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Noonan syndrome is characterized by short stature, mental retardation, typical facial morphology, webbed neck and congenital heart disease. Noonan syndrome can be inherited in an autosomal dominant manner but all Korean patients with Noonan syndrome have been reported as sporadic cases thus far. In approximately 50-60% of cases, the disease is caused by mutation in the PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) gene on chromosome 12, encoding SHP-2 (Src homology protein-tyrosine phosphatase-2). We have experienced a boy and his father with typical clinical features of Noonan syndrome in whom Asn58Asp mutation of the PTPN11 gene were identified. To the best of our knowledge, this is the first report of genetically confirmed familial Noonan syndrome in Korea.
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KEYWORD
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Noonan syndrome, PTPN11 gene
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