کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814557 1569530 2009 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The etiology of congenital diaphragmatic hernia: Still largely unknown?
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
The etiology of congenital diaphragmatic hernia: Still largely unknown?
چکیده انگلیسی

Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by a defect in the diaphragm associated with pulmonary hypoplasia and postnatal pulmonary hypertension. Half of the cases present with other non-pulmonary congenital anomalies (so called non-isolated CDH) and in 5–10% of cases there is a chromosomal etiology.The clinical aspects of CDH are well documented but knowledge on the etiology of CDH is largely lacking.Worldwide many researchers have focused research efforts on CDH. Their findings have led to several hypotheses proposing roles for genetic and environmental factors. In this review we have combined these findings with our own research on the genetics of CDH in results from recent literature and propose a theory on the etiology of CDH. We also propose a protocol for the CDH patient that will help clinicians and researchers to obtain maximal success out of their collaborations that will eventually lead to unravelling the etiology of this intriguing birth defect.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 52, Issue 5, September–October 2009, Pages 281–286
نویسندگان
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