CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.
Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins ML, Morris L, Del Monte M, Magli A, de Berardinis T.
Engle EC, et al.
BMC Genet. 2002;3:3. doi: 10.1186/1471-2156-3-3. Epub 2002 Mar 6.
BMC Genet. 2002.
PMID: 11882252
Free PMC article.