Aarskog-Scott syndrome
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).
A mutation in the pleckstrin homology (PH) domain of the <span class="gene" id="10930571-0-57-61">FGD1</span> gene in an Italian family with <span class="disease" id="10930571-0-93-115">faciogenital dysplasia</span> (<span class="disease" id="10930571-0-117-139">Aarskog-Scott syndrome</span>).