Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):274-9.

Noonan syndrome.

Source

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada. allanson@cheo.on.ca

Abstract

Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.

PMID:: 17639592; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Review

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Noonan syndrome: the changing phenotype. [Am J Med Genet. 1985]
Noonan syndrome: the changing phenotype.
Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Am J Med Genet. 1985 Jul; 21(3):507-14.
Time and natural history: the changing face. [J Craniofac Genet Dev Biol. 1989]
Time and natural history: the changing face.
Allanson JE. J Craniofac Genet Dev Biol. 1989; 9(1):21-8.
Noonan syndrome and systemic lupus erythematosus: presentation in childhood. [Clin Dysmorphol. 2004]
Noonan syndrome and systemic lupus erythematosus: presentation in childhood.
Alanay Y, Balci S, Ozen S. Clin Dysmorphol. 2004 Jul; 13(3):161-3.
Review Noonan syndrome: clinical features, diagnosis, and management guidelines. [Pediatrics. 2010]
Review Noonan syndrome: clinical features, diagnosis, and management guidelines.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Pediatrics. 2010 Oct; 126(4):746-59. Epub 2010 Sep 27.
Review [Three recent cases of Noonan's syndrome]. [Ann Pediatr (Paris). 1978]
Review [Three recent cases of Noonan's syndrome].
Vellieux F, Saint-Jacques I, Loubry P, Joly T, Boissière H. Ann Pediatr (Paris). 1978 Feb; 25(2):91-9.

See reviews... See all...

Cited by 12 PubMed Central articles

Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism. [BMJ Case Rep. 2010]
Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism.
Felcht M, Dikow N, Goebeler M, Stroebel P, Booken N, Voßmerbäumer U, Merx K, Henzler T, Marx A, Moog U, et al. BMJ Case Rep. 2010 May 19; 2010. Epub 2010 May 19.
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. [J Biol Chem. 2012]
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
Martinelli S, Nardozza AP, Delle Vigne S, Sabetta G, Torreri P, Bocchinfuso G, Flex E, Venanzi S, Palleschi A, Gelb BD, et al. J Biol Chem. 2012 Aug 3; 287(32):27066-77. Epub 2012 Jun 18.
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. [Hum Mutat. 2012]
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.
Ferrero GB, Picco G, Baldassarre G, Flex E, Isella C, Cantarella D, Corà D, Chiesa N, Crescenzio N, Timeus F, et al. Hum Mutat. 2012 Apr; 33(4):703-9. Epub 2012 Feb 14.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Noonan syndrome.
Noonan syndrome.
Am J Med Genet C Semin Med Genet. 2007 Aug 15 ;145C(3):274-9.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: