@article{346f51d4c96a414d8560ae6fd1e71ece,
title = "304 GOLDBERG-SHPRINTZEN SYNDROME DUE TO A HOMOZYGOUS DELETION IN KIAA1279: CLINICAL FINDINGS AND PRENATAL DIAGNOSIS IN AN AT-RISK FAMILY.",
author = "Curry, \{C. J.\} and Tsang, \{M. N.\} and M. Friez and Clark, \{R. D.\} and Brooks, \{A. S.\} and Robin Clark",
note = "Goldberg-Shprintzen syndrome (GOSHS) is a rare autosomal recessive disorder characterized by microcephaly with polymicrogyria, mental retardation, Hirschprung's disease, and distinctive dysmorphic features, as yet incompletely delineated. In 2005 Brooks demonstrated by homozygosity mapping a novel locus at 10q21.3-q22.1 and found homozygous nonsense mutations in KIAA1279 at 10q22.1 encoding a highly conserved protein expressed in the central and peripheral nervous system (Am J Hum Genet 77:120-126).",
year = "2007",
month = jan,
day = "1",
doi = "10.1097/00042871-200701010-00311",
language = "American English",
volume = "55",
journal = "Journal of Investigative Medicine",
}