Article
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Human mutation - 1 Oct 2010
Johnston Jennifer J, Sapp Julie C, Turner Joyce T, Amor David, Aftimos Salim, Aleck Kyrieckos A, Bocian Maureen, Bodurtha Joann N, Cox Gerald F, Curry Cynthia J, Day Ruth, Donnai Dian, Field Michael, Fujiwara Ikuma, Gabbett Michael, Gal Moran, Graham John M, Hedera Peter, Hennekam Raoul C M, Hersh Joseph H, Hopkin Robert J, Kayserili Hülya, Kidd Alexa M J, Kimonis Virginia, Lin Angela E, Lynch Sally Ann, Maisenbacher Melissa, Mansour Sahar, McGaughran Julie, Mehta Lakshmi, Murphy Helen, Raygada Margarita, Robin Nathaniel H, Rope Alan F, Rosenbaum Kenneth N, Schaefer G Bradley, Shealy Amy, Smith Wendy, Soller Maria, Sommer Annmarie, Stalker Heather J, Steiner Bernhard, Stephan Mark J, Tilstra David, Tomkins Susan, Trapane Pamela, Tsai Anne Chun-Hui, Van Allen Margot I, Vasudevan Pradeep C, Zabel Bernhard, Zunich Janice, Black Graeme C M, Biesecker Leslie G
Abstract excerpt
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This...
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