کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5589096 1569461 2017 17 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
“Serpentine-like syndrome”-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
“Serpentine-like syndrome”-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies
چکیده انگلیسی
To our knowledge, the present patient represents the 8th report of a case of “Serpentine-like syndrome”. Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental “toolkit”/homeobox gene or related pathways.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 60, Issue 2, February 2017, Pages 100-104
نویسندگان
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