Aarskog-Scott syndrome
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
Unusually severe expression of craniofacial features in <span class="disease" id="17152066-0-56-78">Aarskog-Scott syndrome</span> due to a novel truncating mutation of the <span class="gene" id="17152066-0-121-125">FGD1</span> gene.