Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.992
Abstract: This study reports the genetic features of four Caucasian males from the Saguenay‒Lac‐St‐Jean region affected by partial agenesis of the corpus callosum (ACC) with hypotonia, epilepsy, developmental delay, microcephaly, hypoplasia, and autistic behavior. read more here.
Keywords: developmental delay; corpus callosum; study; agenesis corpus ... See more keywords
Partial agenesis of dorsal pancreas. Report of two cases
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2020.10.029
Abstract: Highlights • Agenesis of the dorsal pancreas is a rare congenital anomaly.• The possibility of finding this disorder is increasing with the use of advanced radiological techniques.• Some patients experience no symptoms.• Rarely, they may… read more here.
Keywords: partial agenesis; agenesis dorsal; dorsal pancreas; pancreas report ... See more keywords