2q31.1 microdeletion syndrome: case report and literature review

We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deleti...

Descripción completa

Detalles Bibliográficos
Autores principales: Puvabanditsin, Surasak, February, Melissa, Shaik, Tazeem, Kashyap, Arun, Bruno, Chantal, Mehta, Rajeev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498842/
https://www.ncbi.nlm.nih.gov/pubmed/26185628
http://dx.doi.org/10.1002/ccr3.260

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498842/
https://www.ncbi.nlm.nih.gov/pubmed/26185628
http://dx.doi.org/10.1002/ccr3.260

Ejemplares similares