Comunicações orais I
Casuísticas e Casos Clínicos
Oral communications I
Case series and clinical cases
16:00-17:00
- 16:00 – Genetic “double trouble”: one patient with two X-linked diagnoses – Sara Pinho
- 16:06 – MYH3-associated arthrogryposis: a small case series – Bibiana Ribeiro
- 16:12 – KBG Syndrome: a two-case report – Inês Beleza
- 16:18 – Xp22.3 deletion Syndrome – A Case Report – Joana Adelaide Catanho
- 16:24 – Spondyloepiphyseal dysplasia with metatarsal shortening, COL2A1‐related: a familial Portuguese case – Margarida A. Patrício
- 16:30 – Clinical and molecular features of 5 cases of TAR syndrome – Catarina Macedo
- 16:36 – Clinical and molecular features of 3 patients with acrodysostosis – Marta Soares
- 16:42 – IHH-related short stature: clinical and molecular characterization of six Portuguese families – Inês Barros Rua