کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2814643 | 1569544 | 2007 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome](/preview/png/2814643.png)
چکیده انگلیسی
We describe a patient born to consanguineous parents, who presented with an MCA pattern characterized by low birth weight, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas and intestinal malrotation. The infant died 60 days after birth. Chromosomes at 550–600 band levels were normal for a female (46,XX). This patient confirmed the autosomal recessive disorder previously described by our group. The pathogenesis of this syndrome is most probably of blastogenetic origin mainly affecting midline developmental duodenal biliary pancreatic junction.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 50, Issue 2, March–April 2007, Pages 144–148
Journal: European Journal of Medical Genetics - Volume 50, Issue 2, March–April 2007, Pages 144–148
نویسندگان
Enrique Galán-Gómez, Emilio Blesa Sánchez, Sonia Arias-Castro, Juan J. Cardesa-García,