Synpolydactyly type 1

Kjaer KW et al. (2005) A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.

Xin Q et al. (2012) Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.

None (2012) Syndactyly: phenotypes, genetics and current classification.

PIPKIN SB et al. (1946) Variation of expression of polydactyly.

None (2011) Type II familial synpolydactyly: report on two families with an emphasis on variations of expression.

None (1947) Zygodactyly and associated variations in a Utah family.

Malik S et al. (2008) Synpolydactyly: clinical and molecular advances.

Kjaer KW et al. (2002) HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

Goodman FR et al. (2002) A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

Zákány J et al. (1996) Synpolydactyly in mice with a targeted deficiency in the HoxD complex.

Camera G et al. (1995) Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations.

Akarsu AN et al. (1995) A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

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.

None (1971) Treatment of central polydactyly.

Cross HE et al. (1968) Type II syndactyly.

Merlob P et al. (1986) Type II syndactyly or synpolydactyly.

Dai L et al. (2014) Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

Zhao X et al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

Sayli BS et al. (1995) A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.

Muragaki Y et al. (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

Akarsu AN et al. (1996) Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.

Goodman F et al. (1998) Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

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.

Kan SH et al. (2003) An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.

Fantini S et al. (2009) A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.

Kurban M et al. (2011) A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.

Brison N et al. (2012) An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.

Wang B et al. (2012) A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

Zhou X et al. (2013) A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

Brison N et al. (2014) Joining the fingers: a HOXD13 Story.

Shi X et al. (2013) A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.

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