Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: Insights into malformations of the mid-hindbrain

Kimberly M. Macferran, Robert F. Buchmann, Raghu Ramakrishnaiah, May L. Griebel, Warren G. Sanger, Anirudh Saronwala, G. Bradley Schaefer

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Medicine & Life Sciences