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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome
Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and ALK1 (for HHT). Recently, aExpand
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Genomic rearrangements involving AUTS2 (7q11.22) are associated with autism and intellectual disability (ID), although evidence for causality is limited. By combining the results of diagnosticExpand
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Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes
Although copy number changes of 5q31 have been rarely reported, deletions have been associated with some common characteristics, such as short stature, failure to thrive, developmental delayExpand
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A new hypothesis of OCA1B
Pigmentation is a polygenic trait determined primarily by the amount and type of pigments [Yamaguchi et al., 2007]. The spectrum of pigmentation in humans is highly diverse. Many genes are involvedExpand
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Amount and influence of perioperative fluid administration on outcome in routine elective colorectal surgery according to an ERAS protocol
SummaryBackgroundRestrictive perioperative fluid management is an essential element of enhanced recovery after surgery (ERAS), but the exact definition of quality and quantity of administered fluidExpand
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Effect of perioperative epidural anesthesia in elective laparoscopic colorectal resections
SummaryBackgroundThe role of general anesthesia combined with epidural anesthesia in laparoscopic colorectal surgery is still controversial. In this retrospective study of 84 consecutive patients,Expand
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