Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum [5]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 12, 2006, Pages 1343-1345

  Spruijt, L ^a   Hoefsloot, L H ^b   Van Schaijk, G H W H ^c   Van Waardenburg, D ^c   Kremer, B ^c   Brackel, H J L ^d   De Die Smulders, C E M ^a,c  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d CATHARINA HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOTONSILLECTOMY; ADULT; ARTIFICIAL VENTILATION; BREATHING DISORDER; CASE REPORT; EYA1 GENE; FEMALE; FUNNEL CHEST; GENE; GENE IDENTIFICATION; GENE MUTATION; GLOSSOPTOSIS; HUMAN; HYPOXEMIA; INFANT; LARYNGOMALACIA; LETTER; LOW SET EAR; MALE; MICROGNATHIA; PRIORITY JOURNAL; RETROGNATHIA; SLEEP APNEA SYNDROME; SNORING; UPPER RESPIRATORY TRACT OBSTRUCTION;

DNA MUTATIONAL ANALYSIS; FUNNEL CHEST; HUMANS; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LARYNGEAL DISEASES; MALE; MUTATION; NUCLEAR PROTEINS; PROTEIN-TYROSINE-PHOSPHATASE; RETROGNATHISM;

EID: 33744816776     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31285     Document Type: Letter

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