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Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Pubmed ID: 
30982611
Year: 
2019
Month: 
Apr
Citation: 
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Pathogenic Variants in GPC4 Cause Keipert Syndrome. American Journal of Human Genetics (2019) PubMed (Grant IDs: 1054618, 1002098, GNT1032364, 1102971)