Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review

RATIONALE: 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, dige...

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Detalles Bibliográficos
Autores principales: Shi, Huiping, Wang, Zhaoyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
4800
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841983/
https://www.ncbi.nlm.nih.gov/pubmed/29465581
http://dx.doi.org/10.1097/MD.0000000000009936

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841983/
https://www.ncbi.nlm.nih.gov/pubmed/29465581
http://dx.doi.org/10.1097/MD.0000000000009936

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