Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.
Hoppe A, Heinemeyer J, Klopocki E, Graul-Neumann LM, Spors B, Bittigau P, Kaindl AM.
Meta Gene. 2014 Jan 11;2:72-82. doi: 10.1016/j.mgene.2013.10.014. eCollection 2014 Dec.
PMID:25606391
Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome.