@article{724ddb54103e47b2a476d2d0c98c1643,
title = "Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype",
abstract = "We report on an autosomal dominant syndrome comprising partially absent eye muscles, anterior chamber defects, hydrocephalus, skeletal changes, and a specific facial phenotype",
author = "Chitty, {Lyn S.} and Rory McCrimmon and Temple, {I. Karen} and Russell-Eggitt, {Isobel M.} and Michael Baraitser",
note = "M1 - 4 Chitty, L S McCrimmon, R Temple, I K Russell-Eggitt, I M Baraitser, M eng 1991/09/15 Am J Med Genet. 1991 Sep 15;40(4):417-20.",
year = "1991",
month = sep,
day = "15",
doi = "10.1002/ajmg.1320400407",
language = "English",
volume = "40",
pages = "417--420",
journal = "American Journal of Medical Genetics Part A",
issn = "1552-4833",
publisher = "Wiley",
number = "4",
}