OPD1
We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.
We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an <span class="disease" id="15940695-4-103-107">OPD1</span> syndrome who carried a novel <span class="gene" id="15940695-4-137-141">FLNA</span> point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.