Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, HallBD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M. Holoprosencephaly dueto mutations in ZIC2: alanine tract expansion mutations may be caused by parentalsomatic recombination. Hum Mol Genet. 2001 Apr 1;10(8):791-6.
Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S,Hennekam RC, Muenke M. Holoprosencephaly due to mutations in ZIC2, a homologue ofDrosophila odd-paired. Nat Genet. 1998 Oct;20(2):180-3.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. Review.
Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U, BendavidC, Zhou N, Ouspenskaia M, Bale S, Odent S, David V, Muenke M. The full spectrumof holoprosencephaly-associated mutations within the ZIC2 gene in humans predictsloss-of-function as the predominant disease mechanism. Hum Mutat. 2009Apr;30(4):E541-54. doi: 10.1002/humu.20982.
Roessler E, Muenke M. The molecular genetics of holoprosencephaly. Am J MedGenet C Semin Med Genet. 2010 Feb 15;154C(1):52-61. doi: 10.1002/ajmg.c.30236.Review.
Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, HardistyE, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J,Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, ThomasRL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype andcomprehensive analysis of 157 individuals. J Med Genet. 2010 Aug;47(8):513-24.doi: 10.1136/jmg.2009.073049.
Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M. Analysis of genotype-phenotypecorrelations in human holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240. Review.
Tekendo-Ngongang C, Muenke M, Kruszka P. Holoprosencephaly Overview. 2000 Dec 27 [updated 2020 Mar 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1530/
Warr N, Powles-Glover N, Chappell A, Robson J, Norris D, Arkell RM.Zic2-associated holoprosencephaly is caused by a transient defect in theorganizer region during gastrulation. Hum Mol Genet. 2008 Oct 1;17(19):2986-96.doi: 10.1093/hmg/ddn197.
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?