Article

A rare Gollop-Wolfgang Syndrome linked to a mutation in Wnt11

2023-05-25

Abstract excerpt

Gollop-Wolfgang syndrome (GWS) is a rare congenital limb anomaly of unknown genetic background, characterized by a tibial aplasia, ipsilateral bifurcation of the thigh bone, and an ectrodactyly. A phenotypically similar condition is called Split-hand/foot malformation associated with aplasia of long bones (SHFLD). Several hotspots on chromosome 17 have been linked to SHFLD phenotype. Some of them, like duplication...

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Literature Corpus work: 46e589ac-d3c7-5cbf-8446-031a3a09855d
DOI: 10.21203/rs.3.rs-2968229/v1

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