Month

October 2017

15
Oct

Deletions of the FOXP1 gene determine clinical manifestations in patients with chromosome 3p13 deletion

Meerschaut I, Rochefort D, Revençu N, et al. “FOXP1-related intellectual disability syndrome: a recognisable entity”. J. Med. Genet. 2017, v. 54, 613-623. Patients with proximal short arm deletions of chromosome 3 (3p13) show intellectual disability (ID), speech and language issues, neurodevelopmental delay, spasticity (increased muscle tone), contractures (shortening and hardening...
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