DOI: 10.1055/s-00029030

Journal of Pediatric Neurology


Pavone P, Briuglia S, Falsaperla R. et al.
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.

Am J Med Genet A 2014;
164A (07) 1734-1743

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