A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

por Jaouadi, Hager, Chehida, Amel Ben, Kraoua, Lilia, Etchevers, Heather C., Argiro, Laurent, Kasdallah, Nadia, Blibech, Sonia, Delague, Valérie, Lévy, Nicolas, Tebib, Néji, Mrad, Ridha, Abdelhak, Sonia, Benkhalifa, Rym, Zaffran, Stéphane
Publicado 2019

Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

por Sassi, Hela, Elaribi, Yasmina, Jilani, Houweyda, Rejeb, Imen, Hizem, Syrine, Sebai, Molka, Kasdallah, Nadia, Bouthour, Habib, Hannachi, Samia, Beygo, Jasmin, Saad, Ali, Buiting, Karin, H’mida Ben‐Brahim, Dorra, BenJemaa, Lamia
Publicado 2021