Atypical XLA caused by a synonymous variant in BTK manifesting with catastrophic encephalopathy

• Authors: GROMBIŘÍKOVÁ Hana; BLOOMFIELD M; KRAMÁREK Michal; KAYSEROVA J; LIBA Z; SOUČEK Přemysl; BÍLY Viktor; FREIBERGER Tomáš
• Year of publication: 2024
• Type: Conference abstract
• MU Faculty or unit: Faculty of Medicine

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