Split-hand/foot malformation with long bone deficiency 1

*Gene map locus 1q42.2-q43

Aplasia of tibia with ectrodactyly

Cleft hand and absent tibia

Ectrodactyly with aplasia of long bones

SHFLD

SHFLD1

Split-hand/foot malformation with long bone deficiency

Tibial aplasia with split-hand/split-foot deformity

[Clinical features: tibia aplasia with or without split-hand/split-foot deformity]

[Inheritance: autosomal dominant]


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	Tibial Hemimelia-Split Hand/Foot Syndrome with Rare Anomalies
American Journal of Human Genetics	Indian Pediatrics

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Edited by Aldo Campana, August 21, 2012