Identification of a novel EYA1 mutation presenting...[Am J Med Genet A. 2006] - PubMed Result

SearchDatabase nameforSearch term

Advanced Search

Your browser version may not work well with NCBI's Web applications. More information here...

Display Show

All: 1

Review: 0

Click to change filter selection through MyNCBI.

1: Am J Med Genet A. 2006 Jun 15;140(12):1343-5. Links

Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.

Spruijt L, Hoefsloot LH, van Schaijk GH, van Waardenburg D, Kremer B, Brackel HJ, de Die-Smulders CE.

Department of Genetics and Cell Biology, University Maastricht, Maastricht, The Netherlands. liesbeth.spruijt@freeler.nl

PMID: 16691597 [PubMed - indexed for MEDLINE]

Related articles

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.
Pediatr Nephrol. 2006 Apr; 21(4):475-81. Epub 2006 Feb 21.

[Pediatr Nephrol. 2006]
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Hum Mutat. 2008 Apr; 29(4):537-44.

[Hum Mutat. 2008]
A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.
Clin Genet. 2006 Jul; 70(1):63-7.

[Clin Genet. 2006]
ReviewBranchio-oto-renal syndrome.
Am J Med Genet A. 2007 Jul 15; 143A(14):1671-8.

[Am J Med Genet A. 2007]
Review[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts]
Med Wieku Rozwoj. 2006 Jan-Mar; 10(1 Pt 2):289-308.

[Med Wieku Rozwoj. 2006]
» See reviews... | » See all...

Recent Activity

Clear Turn Off Turn On

Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, gloss...Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Display Show