Article
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation.
American journal of medical genetics. Part A - 1 Dec 2020
Cacciatori Elena, Lelii Mara, Russo Silvia, Alari Valentina, Masciadri Maura, Guez Sophie, Patria Maria Francesca, Marchisio Paola, Milani Donatella
Abstract excerpt
Rett syndrome (RTT, MIM * 312750) is an X-linked neurodevelopmental disorder caused by pathogenic variants at the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2, MIM * 300005). The spectrum of MECP2-related phenotypes is wide and it ranges from asymptomatic female carriers to severe neonatal-onset encephalopathy in males. Abnormal breathing represents one of the leading features, but today...
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