کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2178015 | 1549631 | 2013 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیولوژی سلول
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
We report a 2 months old boy, the first in order of birth of non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II (OFDS II) including cleft lip, high arched palate, retromicrognathia, preaxial polysyndactyly of hands and feet, duplication of thumb and hallux. Interestingly, the patient also had mesoaxial polydactyly of the left hand with extra metacarpal bones characteristic of OFDS. VI, however mentality and MRI brain were normal. This unusual association may suggest an additional subgroup of OFDSs or a variant of OFDS II due to variable gene expression or a transitional type between OFDS II and OFDS VI.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Egyptian Journal of Medical Human Genetics - Volume 14, Issue 3, July 2013, Pages 311–315
Journal: Egyptian Journal of Medical Human Genetics - Volume 14, Issue 3, July 2013, Pages 311–315
نویسندگان
Rabah M. Shawky, Solaf M. Elsayed, Heba S. Abd-Elkhalek, Shimaa Gad,