Mas também já tivemos casos mais complicados: paciente com #diabetes tipo #MODY #GCK herdado da mãe e déficit intelectual com imunodeficiência, causado por uma mutação de novo no gene #BCL11B Caso F:II-2 do artigo https://t.co/O5hNFwzrRC
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. https://t.co/cEIyg4aUa7
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Glad to be part of international efforts that led to the discovery of 3 new genetic syndromes: FBXO11 (https://t.co/CuK9pe63zs ), BCL11B (https://t.co/C1TC9BHbDI ) and CACNA1G (https://t.co/QBYWLAt7Iz)
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells https://t.co/p5n7uSTsQM