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Point mutations in human GLI3 cause Greig syndrome.
Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, König R, Grzeschik KH. Wild A, et al. Among authors: kalff suske m. Hum Mol Genet. 1997 Oct;6(11):1979-84. doi: 10.1093/hmg/6.11.1979. Hum Mol Genet. 1997. PMID: 9302279
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, König R, Kunze J, Meinecke P, Müller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH. Kalff-Suske M, et al. Hum Mol Genet. 1999 Sep;8(9):1769-77. doi: 10.1093/hmg/8.9.1769. Hum Mol Genet. 1999. PMID: 10441342
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M. Debeer P, et al. Among authors: kalff suske m. Am J Med Genet A. 2003 Jul 1;120A(1):49-58. doi: 10.1002/ajmg.a.20018. Am J Med Genet A. 2003. PMID: 12794692
Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
Kalff-Suske M, Paparidis Z, Bornholdt D, Cole T, Kalff-Suske M, Grzeschik KH. Kalff-Suske M, et al. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046066 No abstract available.
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.
Driess S, Freese K, Bornholdt D, Kobelt A, Kress W, Mortier G, Radhakrishna U, Antonarakis SE, Rauch A, Suri M, Verheij JB, Woerle H, Grzeschik KH, Kalff-Suske M. Driess S, et al. Among authors: kalff suske m. Hum Genet. 2003 Jan;112(1):103. Hum Genet. 2003. PMID: 12575660 No abstract available.
Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
Freese K, Driess S, Bornholdt D, Shoenle EJ, Seidel H, Tinschert S, Grzeschik KH, Kalff-Suske M. Freese K, et al. Among authors: kalff suske m. Hum Genet. 2003 Jan;112(1):103. Hum Genet. 2003. PMID: 12575661 No abstract available.
16 results