| Abnormal growth in noonan syndrome: the challenge of optimal therapy. | |
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MedLine Citation:
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PMID: 19550387 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Noonan syndrome (NS) is a phenotypically heterogeneous condition frequently associated with short stature. Genetic investigations have identified mutations in several genes, e.g. PTPN11, KRAS, RAF and SOS1 in patients with the NS phenotype and related disorders such as LEOPARD, Costello and Cardiofacio- cutaneous syndromes. In NS, PTPN11 mutations are present in 29-60% of cases. The degree of short stature does not associate closely with the presence of a mutation; however, some PTPN11-positive patients have decreased growth hormone (GH)-dependent growth factors consistent with mild GH insensitivity. GH therapy induces short-term increases in height velocity over 1-3 years, and is likely to improve adult height. |
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Authors:
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Martin O Savage; Raja Padidela; Jeremy M W Kirk; Alexsandra C Malaquias; Alexander A L Jorge |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Pediatric endocrinology reviews : PER Volume: 6 Suppl 4 ISSN: 1565-4753 ISO Abbreviation: Pediatr Endocrinol Rev Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-06-24 Completed Date: 2009-08-13 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 101202124 Medline TA: Pediatr Endocrinol Rev Country: Israel |
Other Details:
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Languages: eng Pagination: 523-8 Citation Subset: IM |
Affiliation:
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Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK. m.o.savage@qmul.ac.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Body Height Child Female Genotype Growth Disorders / drug therapy*, etiology* Heart Defects, Congenital / complications Human Growth Hormone / therapeutic use* Humans Male Mitogen-Activated Protein Kinases / genetics Mutation Noonan Syndrome / complications*, drug therapy*, genetics Phenotype ras Proteins / genetics |
| Chemical | |
Reg. No./Substance:
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12629-01-5/Human Growth Hormone; EC 2.7.11.24/Mitogen-Activated Protein Kinases; EC 3.6.5.2/ras Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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