Unexpected phenotype in a frameshift mutation of PTCH1

ConclusionThis is the first case with aPTCH1 point mutation with a 9q22.3 microdeletion syndrome phenotype. This finding may strengthen the importance of the role of thePTCH1, especially regarding the metopic craniosynostosis.

Source: Molecular Genetics & Genomic Medicine - October 1, 2019 Category: Genetics & Stem Cells Authors: Benedetta Beltrami, Elisabetta Prada, Gianluca Tolva, Giulietta Scuvera, Rosamaria Silipigni, Daniela Graziani, Gaetano Bulfamante, Cristina Gervasini, Paola Marchisio, Donatella Milani Tags: ORIGINAL ARTICLE Source Type: research