Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review

BACKGROUND: Xia‐Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT‐hook DNA‐binding motif‐containing 1 gene (AHDC1), encoding a protein with a crucial role in transcription and epigenetic regulation, axonogenesis, brain function, and neurodevelopment....

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Detalles Bibliográficos
Autores principales: Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, Capra, Valeria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545659/
https://www.ncbi.nlm.nih.gov/pubmed/35716097
http://dx.doi.org/10.1002/bdr2.2058

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