T transition in exon 10 of the LIFR gene. This change converts a codon for glutamine (CAA) to a termination codon (TAA), which is consistent with the diagnosis of StuveWiedemann syndrome. The newborn patient was admitted to the neonatal intensive unit. Mechanical ventilation was started for 11 days. The infant was discharged on home oxygen therapy with regular follow ups in the outpatient clinic."/>
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RMJ. 2015; 40(1): 119-121 Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag.
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How to Cite this Article |
Pubmed Style Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag. Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome. RMJ. 2015; 40(1): 119-121. Web Style Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag. Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome. https://www.rmj.org.pk/?mno=171588 [Access: December 08, 2023]. AMA (American Medical Association) Style Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag. Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome. RMJ. 2015; 40(1): 119-121. Vancouver/ICMJE Style Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag. Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome. RMJ. (2015), [cited December 08, 2023]; 40(1): 119-121. Harvard Style Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag (2015) Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome. RMJ, 40 (1), 119-121. Turabian Style Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag. 2015. Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome. Rawal Medical Journal, 40 (1), 119-121. Chicago Style Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag. "Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome." Rawal Medical Journal 40 (2015), 119-121. MLA (The Modern Language Association) Style Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag. "Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome." Rawal Medical Journal 40.1 (2015), 119-121. Print. APA (American Psychological Association) Style Ali M Alsuheel, Maha T Almofareh, AlHakami Ali, Asiri Ashwag (2015) Congenital bowing of long bones and intermittent hyperpyrexia consistent with StüveWiedemann Syndrome. Rawal Medical Journal, 40 (1), 119-121. |