atrial septal defect
The clinical similarity of our family to these patients with mutations in PQBP1, particularly the presence of microcephaly, short stature, and atrial septal defect, prompted examination of this gene.
The clinical similarity of our family to these patients with mutations in <span class="gene" id="16740914-5-74-79">PQBP1</span>, particularly the presence of microcephaly, short stature, and <span class="disease" id="16740914-5-143-163">atrial septal defect</span>, prompted examination of this gene.