A Saudi Patient with an Interstitial Deletion of Short Arm of Chromosome 3 (p13 to p21) and its Association with Joubert's Syndrome Features

We report a case of 4 weeks old girl with a de novo interstitial deletion of the short arm of chromosome 3 (p13-p21) and clinical findings typical of proximal 3p deletion together with heart defects, choanal atresia, ear anomalies, central nervous system anomalies, renal anomalies and associated Jou...

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Detalles Bibliográficos
Autores principales: Mersal, Ali Y., Basha, Mahaboob K., Brinji, Zaina S., Avand, Ghazal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3761952/
https://www.ncbi.nlm.nih.gov/pubmed/24027747
http://dx.doi.org/10.4103/2249-4847.109250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3761952/
https://www.ncbi.nlm.nih.gov/pubmed/24027747
http://dx.doi.org/10.4103/2249-4847.109250

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