A case of bilateral retinoblastoma with a novel mutation presenting at retinopathy of prematurity screening.
Neonatology Division, Department of Pediatrics, MC 315, King Abdulaziz Hospital for National Guard, PO Box 2477, Al-Ahsa 31982, Kingdom of Saudi Arabia. abdis@ngha.med.sa
Sameer Y
SY
Al-Abdi
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D018388:Codon, Terminator / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D016368:Frameshift Mutation / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D033162:Incidental Findings; D007231:Infant, Newborn; D007234:Infant, Premature; D053685:Laser Therapy / Q000379:methods; D008297:Male; D015997:Neonatal Screening; D017354:Point Mutation / Q000235:genetics*; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D012175:Retinoblastoma / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D016160:Retinoblastoma Protein / Q000235:genetics*; D012178:Retinopathy of Prematurity / Q000175:diagnosis; D013941:Thymine / Q000378:metabolism; D016896:Treatment Outcome; D014429:Twins, Dizygotic
D018388:Codon, Terminator; D005819:Genetic Markers; D016160:Retinoblastoma Protein; D013941:Thymine