Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and of...

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Detalles Bibliográficos
Autores principales: Baker, Elizabeth K., Brewer, Casey J., Ferreira, Leonardo, Schapiro, Mark, Tenney, Jeffrey, Wied, Heather M., Kline‐Fath, Beth M., Smolarek, Teresa A., Weaver, K. Nicole, Hopkin, Robert J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099970/
https://www.ncbi.nlm.nih.gov/pubmed/36433683
http://dx.doi.org/10.1002/ajmg.a.63057

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099970/
https://www.ncbi.nlm.nih.gov/pubmed/36433683
http://dx.doi.org/10.1002/ajmg.a.63057

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