Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

Copy number variations (CNVs) involving the JAG1 gene are rare and infrequently reported in the scientific literature. Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us. Herein, we discuss the patient, a 7-year-old female possessing a 0....

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Detalles Bibliográficos
Autores principales: Khattak, Shahzaib, Jan, Meryam, Warsi, Sara, Khattak, Sohail
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7369683/
https://www.ncbi.nlm.nih.gov/pubmed/32733715
http://dx.doi.org/10.1155/2020/7093409

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7369683/
https://www.ncbi.nlm.nih.gov/pubmed/32733715
http://dx.doi.org/10.1155/2020/7093409

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