Article
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.
European journal of medical genetics - 1 May 2020
Alghamdi Malak, Alkhamis Waleed H, Bashiri Fahad A, Jamjoom Dima, Al-Nafisah Ghada, Tahir Asma, Abdouelhoda Mohamed
Abstract excerpt
This report describes siblings with Stromme syndrome, a rare genetic condition that primarily presents with a triad of intestinal atresia, cranial and ocular malformations, and other organ systems could be involved. This clinical triad was initially named after the first person to describe it in 1993. Here, we report a family with two siblings who presented with unusual intestinal atresia and ocular and CNS...
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