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"Thanatophoric dysplasia"

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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