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SH3PXD2B and Frank–Ter Haar Syndrome 

SH3PXD2B and Frank–Ter Haar Syndrome
SH3PXD2B and Frank–Ter Haar Syndrome

Hans Van Bokhoven

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date: 27 February 2021

Frank-Ter Haar syndrome (FTHS) is characterized by skeletal, cardiovascular, and eye abnormalities and is caused by homozygous mutation is the SH3PXD2B gene encoding the podosomal protein TKS4.

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