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MECP2 Variants in Males: More Common than Previously Appreciated.

Pediatric neurology - 1 Dec 2024

Ananth Amitha, Fu Cary, Neul Jeffrey L, Benke Tim, Marsh Eric, Suter Bernhard, Ferdinandsen Kathleen, Skinner Steven A, Annese Fran, Percy Alan K

Abstract excerpt

BACKGROUND: To assess the age and MECP2 variants of recently identified males and set the stage for further study of clinical features in males. METHODS: Genetic information on the specific MECP2 variant was acquired from the coordinator (K.F.) of the Parent Group for Males. Data were collected indicating whether these variants were de novo or transmitted from the mother and whether males who appeared to meet the...

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PMID: 39476560
DOI: 10.1016/j.pediatrneurol.2024.09.022

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