PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”-Reference-Cited by-同舟云学术

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PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

Published:2006-05-30 Issue:11 Volume:165 Page:803-805
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Digilio M. Cristina,Sarkozy Anna,Pacileo Giuseppe,Limongelli Giuseppe,Marino Bruno,Dallapiccola Bruno

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-006-0163-7.pdf

Reference14 articles.

1. Conti E, Dottorini T, Sarkozy A, Tiller GE, Esposito G, Pizzuti A, Dallapiccola B (2003) A novel PTPN11 mutation in LEOPARD syndrome. Hum Mutat 21:654

2. Coppin BD, Temple IK (1997) Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet 34:582–586

3. Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B (2002) Grouping of Multiple-Lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71:389–394

4. Digilio MC, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R, Calabrò R, Marino B, Dallapiccola B (2006) LEOPARD syndrome: clinical diagnosis in the first year of life. Am J Med Genet 140A:740–746

5. Hirsch HD, Gelband H, Garcia O, Gottlieb S, Tamer DM (1975) Rapidly progressive obstructive cardiomyopathy in infants with Noonan’s syndrome. Report of two cases. Circulation 52:1161–1165

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