Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

por AlHarbi, Musa, Mubarak, Nahla, AlMubarak, Latifa, Aljelaify, Rasha, AlSaeed, Mariam, Almutairi, Amal, AlJabarat, Weal, Alqubaishi, Fatimah, Al-Subaie, Lamia, AlTassan, Nada, Neben, Cynthia L., Zhou, Alicia Y., Abedalthagafi, Malak
Publicado 2018

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

por Macken, William L., Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A., Self, Jay, Douglas, Andrew G. L., Kao, Alexander P., Guille, Matthew, Baralle, Diana
Publicado 2021