Vordingborg-type synpolydactyly is an autosomal dominant disorder caused by mutations of the HOXD13 gene.
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Xin Q et al. (2012) Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly. |
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None (2011) Type II familial synpolydactyly: report on two families with an emphasis on variations of expression. |
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Kjaer KW et al. (2002) HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. |
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Goodman FR et al. (2002) A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. |
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Sarfarazi M et al. (1995) Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. |
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None (1971) Treatment of central polydactyly. |
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Cross HE et al. (1968) Type II syndactyly. |
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Merlob P et al. (1986) Type II syndactyly or synpolydactyly. |
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Dai L et al. (2014) Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families. |
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Zhao X et al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. |
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Sayli BS et al. (1995) A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. |
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Muragaki Y et al. (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. |
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Akarsu AN et al. (1996) Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. |
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Goodman F et al. (1998) Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. |
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Debeer P et al. (2002) Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. |
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Kan SH et al. (2003) An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. |
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Fantini S et al. (2009) A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype. |
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Kurban M et al. (2011) A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. |
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Brison N et al. (2012) An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning. |
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Wang B et al. (2012) A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family. |
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Zhou X et al. (2013) A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family. |
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Brison N et al. (2014) Joining the fingers: a HOXD13 Story. |
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Shi X et al. (2013) A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning. |
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Orphanet article Orphanet ID 295195 |
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OMIM.ORG article Omim 186000 |
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Wikipedia article Wikipedia EN (Syndactyly) |