1 | DEL20Q13, DEL20QD, GNAS |
Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus. | |
Kelsey G. | |
Am J Med Genet C Semin Med Genet 154C(3):377-86. Review.PMID: 20803660 2010 | |
2 | GNAS, DEL20Q13 |
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. | |
Genevieve D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani-Samara D, Pinto G, Ozilou C, Abeguile G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M. | |
Eur J Hum Genet 13(9):1033-9. 2005 | |
3 | DEL20Q13, GNAS, PHP1A, PHP1C |
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. | |
Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L. | |
Am J Med Genet 113(2):167-72. 2002 | |