Greig DM: Oxycephaly. Edinb Med J. 1926, 33: 189-218.
Google Scholar
Gorlin RJ, Cohen MM, Hennekam RCM: Greig cephalopolysyndactyly syndrome. Syndromes of the Head and Neck. Edited by: Gorlin RJ, Cohen MM Jr, Hennekam RCM. 2001, New York: Oxford University Press, 995-996. 4
Google Scholar
Baraitser M, Winter RM, Brett EM: Greig cephalopolysyndactyly: report of 13 affected individuals in three families. Clin Genet. 1983, 24: 257-265.
Article
CAS
PubMed
Google Scholar
Duncan PA, Klein RM, Wilmot PL, Shapiro LR: Greig cephalopolysyndactyly syndrome. Am J Dis Child. 1979, 133: 818-821.
CAS
PubMed
Google Scholar
Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE: Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Genes Chromosomes Cancer. 2005, 42: 82-86. 10.1002/gcc.20100.
Article
CAS
PubMed
Google Scholar
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ: Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005, 76: 609-622. 10.1086/429346.
Article
PubMed Central
CAS
PubMed
Google Scholar
Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M: Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet A. 2003, 120 (1): 49-58. 10.1002/ajmg.a.20018.
Article
Google Scholar
Driess S, Freese K, Bornholdt D, Kobelt A, Kress W, Mortier G, Radhakrishna U, Antonarakis SE, Rauch A, Suri M: Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. Hum Genet. 2003, 112: 103-10.1007/s00439-002-0868-2.
Article
CAS
Google Scholar
Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG: Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A. 2003, 123A (3): 236-242. 10.1002/ajmg.a.20318.
Article
PubMed
Google Scholar
Kalff-Suske M: Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. Hum Genet. 2000, 107: 203-
Google Scholar
Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG: Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet. 1999, 8: 1769-1777. 10.1093/hmg/8.9.1769.
Article
CAS
PubMed
Google Scholar
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV: The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type- A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet. 1999, 65: 645-655. 10.1086/302557.
Article
PubMed Central
CAS
PubMed
Google Scholar
Vortkamp A, Gessler M, Grzeschik K-H: GLI3 zinc finger gene interrupted by translocations in Greig syndrome families. Nature. 1991, 352: 539-540. 10.1038/352539a0.
Article
CAS
PubMed
Google Scholar
Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, König R, Grzeschik K-H: Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet. 1997, 6: 1979-1984. 10.1093/hmg/6.11.1979.
Article
CAS
PubMed
Google Scholar
Williams PG, Hersh JH, Yen FF, Barch MJ, Kleinert HE, Kunz J, Kalff-Suske M: Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. Clin Genet. 1997, 52: 436-441.
Article
CAS
PubMed
Google Scholar
Johnston J, Walker R, Davis S, Facio F, Turner J, Bick D, Daentl D, Ellison J, Meltzer P, Biesecker L: Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. J Med Genet. 2007, 44: e59-10.1136/jmg.2006.042473.
Article
PubMed Central
PubMed
Google Scholar
Biesecker LG: Polydactyly: how many disorders and how many genes?. Am J Med Genet. 2002, 112: 279-283. 10.1002/ajmg.10779.
Article
PubMed
Google Scholar
Everman D: The polydactylies. Human Malformations and Related Anomalies. Edited by: Stevenson RE, Hall JG. 2006, Oxford: Oxford University Press, 937-953.
Google Scholar
Biesecker LG: What you can learn from one gene: GLI3. J Med Genet. 2006, 43: 465-469. 10.1136/jmg.2004.029181.
Article
PubMed Central
CAS
PubMed
Google Scholar
Gorlin RJ, Cohen MM, Hennekam RCM: Acrocallosal syndrome. Syndromes of the Head and Neck. Edited by: Gorlin RJ, Cohen MM, Jr, Hennekam RCM. 2001, Oxford: Oxford University Press, 996-998.
Google Scholar
Elson E, Perveen R, Donnai D, Wall S, Black GC: De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet. 2002, 39: 804-806. 10.1136/jmg.39.11.804.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kroisel PM, Petek E, Wagner K: Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am J Med Genet. 2001, 102: 243-249. 10.1002/ajmg.1443.
Article
CAS
PubMed
Google Scholar
Teebi AS: New autosomal dominant syndrome resembling craniofrontonasal dysplasia. Am J Med Genet. 1987, 28: 581-591. 10.1002/ajmg.1320280306.
Article
CAS
PubMed
Google Scholar
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IM, Morton JE: RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet. 2007, 80: 1162-1170. 10.1086/518047.
Article
PubMed Central
CAS
PubMed
Google Scholar
Gorlin RJ, Cohen MM, Hennekam RCM: Gorlin (nevoid basal cell carcinoma) syndrome. Syndromes of the Head and Neck. Edited by: Gorlin RJ, Cohen MM, Jr, Hennekam RCM. 2001, Oxford: Oxford University Press, 444-453.
Google Scholar
Balk K, Biesecker LG: The clinical atlas of Greig cephalopolysyndactyly syndrome. Am J Med Genet A. 2008, 146: 548-557.
Article
Google Scholar