How to Trip Rapid Review

Step 1: Select articles relevant to your search (remember the system is only optimised for single intervention studies)

Step 2: press

Step 3: review the result, and maybe amend the or if you know better! If we're unsure of the overall sentiment of the trial we will display the conclusion under the article title. We then require you to tell us what the correct sentiment is.

1 results for

"Thanatophoric dysplasia"

Latest & greatest

Export results

Use check boxes to select individual results below

SmartSearch available

Trip's SmartSearch engine has discovered connected searches & results. Click to show

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Published in the March 2015 issue of Genetics in M Full Text available with Trip Pro

with developmental delay and acanthosis nigricans; and thanatophoric dysplasia type 2, a lethal skeletal dysplasia, arises from p.Lys650Glu. PP1 BS4 segregation analysis Care must be taken when using segregation of a variant in a family as evidence for pathogenicity. In fact, segregation of a particular variant with a phenotype in a family is evidence for linkage of the locus to the disorder but not evidence of the pathogenicity of the variant itself. A statistical approach has been published , with the caveat

2015 Association for Molecular Pathology