| 1 | HOXD13, PSDY2
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| A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
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| Zhou X, Zheng C, He B, Zhu Z, Li P, He X, Zhu S, Yang C, Lao Z, Zhu Q, Liu X.
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| Bone 57(1):237-41. doi: 10.1016/j.bone.2013.07.039. Epub 2013 Aug 12.
2013
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| 2 | HOXD13, PSDY2
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| A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.
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| Kurban M, Wajid M, Petukhova L, Shimomura Y, Christiano AM.
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| J Hum Genet 56(10):701-6. doi: 10.1038/jhg.2011.84. Epub 2011 Aug 4.
2011
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| 3 | HOXD13, PSDY2
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| A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.
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| Fantini S, Vaccari G, Brison N, Debeer P, Tylzanowski P, Zappavigna V.
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| Hum Mol Genet 18(5):847-60. Epub 2008 Dec 5.
2009
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| 4 | HOXD13, PSDY2
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| Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly.
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| Wajid M, Ishii Y, Kurban M, Dua-Awereh MB, Shimomura Y, Christiano AM.
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| Clin Genet 76(3):300-2. Epub 2009 Aug 17. No abstract available.
2009
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| 5 | PSDY2, PSDY3, PSDY4
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| Synpolydactyly: clinical and molecular advances.
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| Malik S, Grzeschik KH.
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| Clin Genet 73(2):113-20. Epub 2007 Dec 19. Review. 2008
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| 6 | ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
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| Homeodomain revisited: a lesson from disease-causing mutations.
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| Chi YI.
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| Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
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| 7 | HOXD13, PSDY2
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| A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
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| Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N.
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| Am J Med Genet A 138(4):328-39. 2005
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| 8 | EVX2, HOXD@, HOXD10, HOXD11, HOXD12, HOXD13, HOXD9, PSDY2, SHFM5, DEL2Q31
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| A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
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| Goodman FR, Majewski F, Collins AL, Scambler PJ.
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| Am J Hum Genet 70(2):547-55. 2002
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| 9 | HOXD13, PSDY2
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| HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
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| Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, Tommerup N, Opitz JM.
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| Am J Med Genet 110(2):116-21. 2002
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| 10 | DEL2Q31,HFG,HOXA@,HOXB@,HOXC@,HOXD@,PSDY2,SDTY5
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| Limb malformations and the human HOX genes.
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| Goodman FR.
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| Am J Med Genet 112(3):256-65. Review. 2002
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| 11 | HOXD13, PSDY2
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| Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
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| Goodman F, et al.
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| Am J Hum Genet 63 : 992-1000. 1998
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| 12 | HOXD13, PSDY2
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| Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
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| Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ.
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| Proc Natl Acad Sci U S A 94(14):7458-63. 1997
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| 13 | HOXD13, PSDY2
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| Genomic structure of HOXD13 gene : a nine polyalanine duplication causes synpolydactyly in two unrelated families.
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| Akarsu AN, et al.
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| Hum Mol Genet 5 : 945-952. 1996
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| 14 | HOXD13, PSDY2
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| Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.
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| Muragaki Y, et al.
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| Science 272 : 548-551. 1996
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| 15 | PSDY2
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| A large Turkish kindred with syndactyly type II (synpolydactyly). 1 field investigation, clinical and pedigree data.
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| Sayli BS, et al.
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| J Med Genet 32 : 421-434. 1995
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| 16 | PSDY2
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| A large Turkish kindred with syndactyly type II (synpolydactyly). 2 homozygous phenotype ?
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| Akarsu AN, et al.
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| J Med Genet 32 : 435-441. 1995
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| 17 | PSDY2, HOXD8
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| Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.
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| Sarfarazi M, et al.
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| Hum Mol Genet 4 : 1453-1458. 1995
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