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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: bornholdt d. 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. Among authors: bornholdt d. Hum Mol Genet. 1999 Sep;8(9):1769-77. doi: 10.1093/hmg/8.9.1769. Hum Mol Genet. 1999. PMID: 10441342
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.
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. Radhakrishna U, et al. Among authors: bornholdt d. Am J Hum Genet. 1999 Sep;65(3):645-55. doi: 10.1086/302557. Am J Hum Genet. 1999. PMID: 10441570 Free PMC article.
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: bornholdt d. Hum Genet. 2003 Jan;112(1):103. Hum Genet. 2003. PMID: 12575660 No abstract available.
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. Among authors: bornholdt d. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046066 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: bornholdt d. Hum Genet. 2003 Jan;112(1):103. Hum Genet. 2003. PMID: 12575661 No abstract available.
Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D, König A, Happle R, Leveleki L, Bittar M, Danarti R, Vahlquist A, Tilgen W, Reinhold U, Poiares Baptista A, Grosshans E, Vabres P, Niiyama S, Sasaoka K, Tanaka T, Meiss AL, Treadwell PA, Lambert D, Camacho F, Grzeschik KH. Bornholdt D, et al. J Med Genet. 2005 Feb;42(2):e17. doi: 10.1136/jmg.2004.024448. J Med Genet. 2005. PMID: 15689440 Free PMC article. No abstract available.
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