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

L. Spruijt; L.H. Hoefsloot; G.H. van Schaijk; D.A. van Waardenburg; B. Kremer; H.J. Brackel; C.E. de Die-Smulders

doi:10.1002/ajmg.a.31285

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

L. Spruijt^*
, L.H. Hoefsloot
, G.H. van Schaijk
, D.A. van Waardenburg
, B. Kremer
, H.J. Brackel
, C.E. de Die-Smulders

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	1343-1345
Journal	American Journal of Medical Genetics Part A
Volume	140
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.31285
Publication status	Published - 1 Jan 2006

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10.1002/ajmg.a.31285

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16691597

Cite this

Spruijt, L., Hoefsloot, L. H., van Schaijk, G. H., van Waardenburg, D. A., Kremer, B., Brackel, H. J., & de Die-Smulders, C. E. (2006). Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. American Journal of Medical Genetics Part A, 140(12), 1343-1345. https://doi.org/10.1002/ajmg.a.31285

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