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Split-Hand/Foot Malformation

Known as: Ectrodactyly, FEWER DIGITS 
A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands… Expand
National Institutes of Health

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Clinical Data Interchange Standards Consortium TerminologyEctrodactylyHereditary DiseasesSplit hand foot deformity 1
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Papers overview

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2014
2014
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation
Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod… Expand
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2011
2011
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)
Split-hand/foot malformation with long-bone deficiency (SHFLD) is a relatively rare autosomal-dominant skeletal disorder… Expand
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2010
2010
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance.
Split-hand/foot malformation (SHFM) is a limb malformation affecting the central rays of the hands and/or feet. Isolated SHFM… Expand
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Highly Cited
2010
Highly Cited
2010
A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias.
The human congenital syndromes ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome, ankyloblepharon ectodermal dysplasia… Expand
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2007
2007
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.
Split-hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia… Expand
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2004
2004
Ectrodactyly in a West Highland white terrier.
A case of monomelic forelimb ectrodactyly (lobster-claw deformity) in a West Highland white terrier is reported. Clinical and… Expand
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1992
1992
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3.
 
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1984
1984
Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome.
A 27-year-old woman with the syndrome characterized by ectrodactyly, ectodermal dysplasia, and cleft lip-palate had an absent… Expand
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1971
1971
Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter.
1. A family is reported in which tibial aplasia with polydactyly of hands and feet and absent thumbs occurred in a father and… Expand
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Highly Cited
1970
Highly Cited
1970
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.
The association of ectrodactyly, atypical anhidrotic ectodermal dysplasia, and cleft lip and cleft palate is described in a 3… Expand
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