Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Tojo Nakayama(Boston Children's Hospital), Almundher Al‐Maawali(Boston Children's Hospital), Malak El‐Quessny(Boston Children's Hospital), Anna Rajab(Ministry of Health), Samir Khalil(Al-Quds University), Joan M. Stoler(Boston Children's Hospital), Wen‐Hann Tan(Boston Children's Hospital), Ramzi Nasir(Boston Children's Hospital), Klaus Schmitz‐Abe(Broad Institute), Robert Hill(Boston Children's Hospital), Jennifer N. Partlow(Boston Children's Hospital), Muna Al‐Saffar(Boston Children's Hospital), Sarah Servattalab(Boston Children's Hospital), Christopher M. LaCoursiere(Boston Children's Hospital), Dimira Tambunan(Boston Children's Hospital), Michael E. Coulter(Boston Children's Hospital), Princess C. Elhosary(Boston Children's Hospital), Grzegorz Górski(Boston Children's Hospital), A. James Barkovich(University of California, San Francisco), Kyriacos Markianos(Broad Institute), Annapurna Poduri(Boston Children's Hospital), Ganeshwaran H. Mochida(Boston Children's Hospital)
The American Journal of Human Genetics
April 11, 2015
Cited by 80Open Access
Full Text

Abstract


Related Papers

No related papers found

Powered by citation graph analysis