17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report

BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and T...

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Detalles Bibliográficos
Autores principales: Wessel, Karen, Suleiman, Jehan, Khalaf, Tamam E., Kishore, Shivendra, Rolfs, Arndt, El-Hattab, Ayman W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657100/
https://www.ncbi.nlm.nih.gov/pubmed/29070031
http://dx.doi.org/10.1186/s12881-017-0479-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657100/
https://www.ncbi.nlm.nih.gov/pubmed/29070031
http://dx.doi.org/10.1186/s12881-017-0479-3

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