Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation

American Journal of Medical Genetics, Part A

Volumn 167, Issue 2, 2015, Pages 403-406

  Guerin, Andrea ^a,b   So, Joyce ^a,c   Mireskandari, Kamiar ^a   Jougeh Doust, Soghra ^a   Chisholm, Caitlin ^d   Klatt, Regan ^a   Richer, Julie ^d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b KINGSTON GENERAL HOSPITAL   (Canada)

^c CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^d CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

Anterior chamber anomalies; Axenfeld anomaly; Noonan syndrome; PTPN11

Indexed keywords

BETAXOLOL; PROTEIN TYROSINE PHOSPHATASE SHP 2; TRANSCRIPTION FACTOR PITX2;

ANTERIOR EYE SEGMENT; ARTICLE; AUTOSOMAL DISORDER; AXENFELD ANOMALY; BODY DYSMORPHIC DISORDER; CASE REPORT; CATARACT; CEREBELLUM VERMIS; CHROMOSOME DUPLICATION; CLINICAL EXAMINATION; CORNEA DISEASE; ECHOCARDIOGRAPH; EYE DISEASE; EYE EXAMINATION; FACE DYSMORPHIA; FACE EDEMA; FETUS HYDROPS; GENE; GENE MUTATION; GENETIC ANALYSIS; GLAUCOMA; HIP CONTRACTURE; HUMAN; HYPERTELORISM; HYPERTROPHIC CARDIOMYOPATHY; INTRAOCULAR PRESSURE; IRIS DISEASE; MOTOR DYSFUNCTION; NEWBORN; NOONAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PTPN11 GENE; RIEGER SYNDROME; VIRUS INFECTION; CHILD; CONGENITAL MALFORMATION; EYE ABNORMALITIES; FEMALE; GENETICS; MUTATION; PATHOLOGY; PHENOTYPE;

ANTERIOR EYE SEGMENT; CHILD; EYE ABNORMALITIES; FEMALE; GLAUCOMA; HUMANS; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 84921419197     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36841     Document Type: Article

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