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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...

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Détails bibliographiques
Publié dans:Clin Case Rep
Auteurs principaux: Puvabanditsin, Surasak, February, Melissa, Shaik, Tazeem, Kashyap, Arun, Bruno, Chantal, Mehta, Rajeev
Format: Artigo
Langue:Inglês
Publié: John Wiley & Sons, Ltd 2015
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4498842/
https://ncbi.nlm.nih.gov/pubmed/26185628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.260
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