Sotos syndrome
Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.
Our findings suggest that <span class="disease" id="18001468-9-26-40">Sotos syndrome</span> is a rare cause of autism spectrum disorders and that screening for <span class="gene" id="18001468-9-109-113">NSD1</span> mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of <span class="disease" id="18001468-9-232-246">Sotos syndrome</span>.