| 1 | LMBR1, PPD2
|
| Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
|
| Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman S, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW.
|
| Eur J Hum Genet 18(6):733-6. Epub 2010 Jan 13.PMID: 20068592 2010
|
| 2 | LMBR1, PPD2
|
| Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.
|
| Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA.
|
| Clin Genet 76(1):85-90. Epub 2009 Jun 9.PMID: 19519794 2009
|
| 3 | LMBR1, PPD2
|
| Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.
|
| Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB.
|
| Am J Med Genet A 143(1):27-32. 2007
|
| 4 | LMBR1, PPD2
|
| A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.
|
| Wang ZQ, Tian SH, Shi YZ, Zhou PT, Wang ZY, Shu RZ, Hu L, Kong X.
|
| Biochem Biophys Res Commun 355(2):312-7. Epub 2007 Feb 2. 2007
|
| 5 | PPD2, TPT
|
| A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice.
|
| Clark RM, Marker PC, Kingsley DM.
|
| Genomics 67(1):19-27. 2000
|
| 6 | PPD2, TPT
|
| Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.
|
| Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P.
|
| J Med Genet 36 : 32-40. 1999
|
| 7 | C7orf4, LMBR1, NOM1, PPD2, TPT
|
| A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.
|
| Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A,Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA,Heutink P.
|
| Genomics 57(3):342-51. 1999
|
| 8 | PPD2, TPT
|
| An autosomal dominant triphalangeal thumb : polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.
|
| Radhakrishna U, Blouin JL, Solanki JV, Dhoriani GM, Antonarakis SE.
|
| Am J Med Genet 66 : 209-215. 1996
|
| 9 | PPD2, TPT
|
| Linkage of preaxial polydactyly type 2 to 7q36.
|
| Hing AV, et al.
|
| Am J Med Genet 58 : 128-135. 1995
|
| 10 | TPT, PPD2
|
| A complex bilateral polysyndactyly disease locus maps to chromosome 7q36.
|
| Tsukurov O, et al.
|
| Nat Genet 6 : 282-285. 1994
|
| 11 | PPD2, TPT
|
| Phenotypic analysis of triphalangeal thumb and associated hand malformations.
|
| Zguricas J, Snijders PJ, Hovius SE, Heutink P, Oostra BA, Lindhout D.
|
| J Med Genet 31 : 462-467. 1994
|