Clinical Manifestations and Genetic Mutations of Carbonic Anhydrase II Deficiency in a Consanguineous Population

Razan AlAttas, The Hospital for Sick Children, Riyadh, Ar Riyad, Saudi Arabia; Raghad Alhuthil, King Faisal Specialist Hospital and Research Centre, Riyadh, Ar Riyad, Saudi Arabia; Sarah Y. Alharthi, KFSH&RC, Riyadh, Ar Riyad, Saudi Arabia; Rand M. Almofreh, KFSH&RC, riyadh, Ar Riyad, Saudi Arabia; Afaf Alsagheir, King Faisal Specialist Hospital and Research Centre, Riyadh, Ar Riyad, Saudi Arabia; Abdulla Ehlayel, KFSHRC, Riyadh, Ar Riyad, Saudi Arabia