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A case of 9p deletion syndrome with Duane retraction syndrome

The chromosome 9p deletion syndrome is a rare but specific clinical event. The clinical manifestations include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, and a long philtrum) and psychomotor retardation. Here we report a child with chromosome...

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Podrobná bibliografie
Vydáno v:J Pediatr Genet
Hlavní autoři: Sinha, Rahul, Dalal, Shamsher, Raju, Uma, John, Biju M., Negi, Vandana
Médium: Artigo
Jazyk:Inglês
Vydáno: Georg Thieme Verlag KG 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020941/
https://ncbi.nlm.nih.gov/pubmed/27625822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-030
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