Orphanet J Rare Dis. 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29.
PMID:16887026
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O.
Adv Exp Med Biol. 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19.
PMID:20687508
Epidermal nevus syndromes.
Sugarman JL.
Semin Cutan Med Surg. 2007 Dec;26(4):221-30. doi: 10.1016/j.sder.2008.03.006.
PMID:18395670
Epidermal nevus syndromes.
Sugarman JL.
Semin Cutan Med Surg. 2004 Jun;23(2):145-57. doi: 10.1016/j.sder.2004.01.008.
PMID:15295924
Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature.
Siegel DH, Tefft KA, Kelly T, Johnson C, Metry D, Burrows P, Pope E, Cordisco M, Holland KE, Maheshwari M, Keith P, Garzon M, Hess C, Frieden IJ, Fullerton HJ, Drolet BA.
Stroke. 2012 Jun;43(6):1672-4. doi: 10.1161/STROKEAHA.112.650952. Epub 2012 Mar 22.
PMID:22442177
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast.
Satz JS, Barresi R, Durbeej M, Willer T, Turner A, Moore SA, Campbell KP.
J Neurosci. 2008 Oct 15;28(42):10567-75. doi: 10.1523/JNEUROSCI.2457-08.2008.
PMID:18923033
Immune-mediated conditions affecting the brain, eye and ear (BEE syndromes).
Triplett JD, Buzzard KA, Lubomski M, Riminton DS, Barnett MH, Welgampola MS, Halmagyi GM, Nguyen M, Landau K, Lee AG, Plant GT, Fraser CL, Reddel SW, Hardy TA.