Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy.

Autor: Curado Vilares Morgado, Rodrigo Manuel Robalo1,2 (AUTHOR), Ferreira, Ana Margarida1 (AUTHOR), Santos-Silva, Renato1,2 (AUTHOR), Quental, Rita3 (AUTHOR), Carneiro, Angela1,2 (AUTHOR), Estrela-Silva, Sérgio1,2 (AUTHOR)
Zdroj: Case Reports in Ophthalmology. Oct2023, Vol. 14 Issue 1, p519-527. 9p. 5 Illustrations.
Databáze: Academic Search Ultimate