Jornal de doenças genéticas e relatórios genéticos

Abstrato 11, Volume 6 (2022)

Relato de caso

Clinical and Genetic Study of 1p36 Deletion Syndrome in Three Tunisian Patients

  • Yasmina Elaribi*, Houweyda Jilani, Syrine Hizem, Imen Rejeb, Lilia Kraoua, Caroline Rooryck-Thambo, Ahmed Maherzi, Ridha Mrad and Lamia Ben Jemaa

Relato de caso

Novel Variant Documentation of Dystrophic Epidermolysis Bullosa by Whole Exome Sequencing

  • Priyanka Vishwakarma1, Mayank Nilay, Ashish Dubey, Shashank Upadhyay, Amit Joshi, Deepika Kalo and Vishal Kumar Mishra