2 documents found, page 1 of 1
The role of AKT3 copy number changes in brain abnormalities and neurodevelopmen...
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; van Karnebeek, Clara D.; Martins, Cecília; Antunes, Diana; Silva, João; Muttucomaroe, LaurenMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...
The role of AKT3 copy number changes in brain abnormalities and neurodevelopmen...
Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela; Karnebeek, Clara D. van; Martins, Cecília; Antunes, Diana; Silva, JoãoMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...