Citations for
1MCHM, PYCR2
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG.
Ann Neurol 80(1):59-70. doi: 10.1002/ana.24678. Epub 2016 Jun 1. 2016
2MCHM, PYCR1, PYCR2
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH.
Am J Hum Genet 96(5):709-19. doi: 10.1016/j.ajhg.2015.03.003. Epub 2015 Apr 9. 2015
3PYCR1, PYCR2, PYCRL
Functional specialization in proline biosynthesis of melanoma.
De Ingeniis J, Ratnikov B, Richardson AD, Scott DA, Aza-Blanc P, De SK, Kazanov M, Pellecchia M, Ronai Z, Osterman AL, Smith JW.
PLoS One 7(9):e45190. Epub 2012 Sep 14. 2012