Citations for
1DEL20Q13, 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
2GNAS, 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
3DEL20Q13, 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