Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.
Zannolli R, Buoni S, Macucci F, Miracco C, de Santi MM, Piomboni P, Bruni E, Malandrini A, Galluzzi P, Hadjistilianou T, Medaglini S, Mazzei MA, Sacco P, Terrosi-Vagnoli P, Volterrani L, Molinelli M, Burlina AB, Swift JA, Fimiani M.
Zannolli R, et al. Among authors: galluzzi p.
Am J Med Genet A. 2004 Jun 1;127A(2):212-6. doi: 10.1002/ajmg.a.20692.
Am J Med Genet A. 2004.
PMID: 15108215