40 research outputs found
Say syndrome: A new Brazilian case
We report on a Brazilian boy, born to nonconsanguineous parents, who presented short stature, microcephaly, large ears, Robin sequence, hand anomalies, delayed bone age, and developmental delay. Major signs found in this patient are related to the Say syndrome
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
Molecular Technology and Informatics for Personalised Medicine and Healt