Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report

BACKGROUND: CHARGE syndrome is a relatively common cause of deafness and blindness resulting from failure to form the primordia of specific organs due to deficient contribution of neural crest cell derivatives. The majority of CHARGE syndrome cases are caused by heterozygous mutations in CHD7 on chr...

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Detalles Bibliográficos
Autores principales: Donabedian, Patrick L., Walia, Jessica Y., Agarwal-Sinha, Swati
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895878/
https://www.ncbi.nlm.nih.gov/pubmed/35246073
http://dx.doi.org/10.1186/s12886-022-02298-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895878/
https://www.ncbi.nlm.nih.gov/pubmed/35246073
http://dx.doi.org/10.1186/s12886-022-02298-x

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