A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

McEntagart M., Williamson KA., Rainger JK., Wheeler A., Seawright A., De Baere E., Verdin H., Bergendahl LT., Quigley A., Rainger J., Dixit A., Sarkar A., López Laso E., Sanchez-Carpintero R., Barrio J., Bitoun P., Prescott T., Riise R., McKee S., Cook J., McKie L., Ceulemans B., Meire F., Temple IK., Prieur F., Williams J., Clouston P., Németh AH., Banka S., Bengani H., Handley M., Freyer E., Ross A., van Heyningen V., Marsh JA., Elmslie F., FitzPatrick DR.

DOI

10.1016/j.ajhg.2016.03.018

Type

Journal article

Journal

The American Journal of Human Genetics

Publisher

Elsevier BV

Publication Date

05/2016

Volume

98

Pages

981 - 992

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