| A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey. | |
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MedLine Citation:
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PMID: 20718194 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Noonan syndrome is an autosomal dominant disorder characterized by short stature, typical craniofacial features, and congenital heart defects. The underlying genetic defects were not clear until 2001. This report is the first to describe a molecular analysis and associated clinical features of a Turkish mother and son, who were clinically diagnosed as Noonan syndrome when the boy was referred to our department due to short stature. The analysis revealed an A --> G transition at position 923 in exon 8 of the PTPN11 gene, indicating an Asn308Ser substitution. |
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Authors:
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Korcan Demir; Helger G Yntema; Ayça Altincik; Ece Böber |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Turkish journal of pediatrics Volume: 52 ISSN: 0041-4301 ISO Abbreviation: Turk. J. Pediatr. Publication Date: 2010 May-Jun |
Date Detail:
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Created Date: 2010-08-19 Completed Date: 2010-09-21 Revised Date: 2011-05-03 |
Medline Journal Info:
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Nlm Unique ID: 0417505 Medline TA: Turk J Pediatr Country: Turkey |
Other Details:
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Languages: eng Pagination: 321-4 Citation Subset: IM |
Affiliation:
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Department of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child DNA Mutational Analysis Female Humans Male Noonan Syndrome / genetics* Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics* Turkey |
| Chemical | |
Reg. No./Substance:
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EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
| Comments/Corrections | |
Comment In:
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Turk J Pediatr. 2011 Jan-Feb;53(1):117; author reply 118
[PMID:
21534355
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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