Multiple Structural Microform Defects Suggest Role of Modifier Genes.

doi:10.1097/SCS.0000000000007163

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Multiple Structural Microform Defects Suggest Role of Modifier Genes.

The Journal of craniofacial surgery - 1 Jun 2021

Lacerda Rosa Helena Wanderley, Furtado Paulo Germano Cavalcanti, Vieira Alexandre Rezende

Abstract excerpt

ABSTRACT: One of the biggest challenges in clinical genetics is establishing associations between specific germline mutations and the resulting spectrum of phenotypes. The careful characterization of clinical presentations continues to be a tool for establishing these genotype phenotype correlations. The authors intend, by presenting a case study, proposing that the concomitant occurrence of a combinations of...

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