Unexpected phenotype in a frameshift mutation of PTCH1.
Benedetta BeltramiElisabetta PradaGianluca TolvaGiulietta ScuveraRosamaria SilipigniDaniela GrazianiGaetano BulfamanteCristina GervasiniPaola MarchisioDonatella MilaniPublished in: Molecular genetics & genomic medicine (2019)
This is the first case with a PTCH1 point mutation with a 9q22.3 microdeletion syndrome phenotype. This finding may strengthen the importance of the role of the PTCH1, especially regarding the metopic craniosynostosis.
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