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Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome

Two new cases of 16q22.3q23.3 Duplication syndrome demonstrate that phenotype can vary from severely affected to mild psychiatric concerns, even within the same family and identical duplications.

Detalles Bibliográficos
Autores principales: Gunther, Kathryn, Mowrey, Kate, Farach, Laura Schoch
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981733/
https://www.ncbi.nlm.nih.gov/pubmed/33768904
http://dx.doi.org/10.1002/ccr3.3862