Pitt-Hopkins syndrome
We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome.
We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in <span class="gene" id="19896112-2-133-140">CNTNAP2</span> and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with <span class="disease" id="19896112-2-321-342">Pitt-Hopkins syndrome</span>.