نتایج جستجو برای: congenital eye malformation

تعداد نتایج: 282070  

Journal: :Voprosy sovremennoj pediatrii 2023

Congenital aniridia manifests with total or partial absence of the iris. The association disease PAX6 gene has been proven. Changes in structure lead to intrauterine pathology, visual organ malformation, malformation master regulator proteins organogenesis affecting various cells’ differentiation (central nervous system cells included). Such disorders result into development PAX6-associated syn...

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Journal: :The Lancet 1916

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Journal: :The Boston Medical and Surgical Journal 1870

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Journal: :Annals of internal medicine 2016
Jonas F Ludvigsson Peter Ström Cecilia Lundholm Sven Cnattingius Anders Ekbom Åke Örtqvist Nils Feltelius Fredrik Granath Olof Stephansson

Background Earlier studies reporting varying risk estimates for congenital malformation in offspring of mothers undergoing vaccination against H1N1 influenza during pregnancy did not consider the potential role of confounding by familial (genetic and shared environmental) factors. Objective To evaluate an association between maternal H1N1 vaccination during pregnancy and offspring malformatio...

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Journal: :Journal of Diagnostic Medical Sonography 2004

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Journal: :Proceedings of the Royal Society of Medicine 1922

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Journal: :JAMA: The Journal of the American Medical Association 1906

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Journal: :International Journal of Pediatrics and Adolescent Medicine 2017

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Journal: :Journal of Diagnostic Medical Sonography 2016

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2011
Ma'in Masarweh

INTRODUCTION Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities. Here, we report a rare and unusual multiple congenital abnormality, including ano-rectal malformation, in conjunction with chromosome 3q29 segment deletion, which has not previously been reported. CASE PRESENTATION A three-month-old female Jordanian baby presented with an absent anus and co...

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