Article
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
European journal of medical genetics - 1 Apr 2020
Durand Benjamin, Stoetzel Corinne, Schaefer Elise, Calmels Nadège, Scheidecker Sophie, Kempf Nadine, De Melo Charlie, Guilbert Anne-Sophie, Timbolschi Dana, Donato Leonardo, Astruc Dominique, Sauer Arnaud, Antal Maria Cristina, Dollfus Hélène, El Chehadeh Salima
Abstract excerpt
Frank-ter Haar syndrome (FTHS) is a rare autosomal recessive syndrome resulting from mutations in the SH3PXD2B gene involved in the formation of podosomes and invadopodia which have a role in extracellular matrix remodelling and cell migration. FTHS is characterized by facial dysmorphism, megalocornea, inconstant glaucoma, variable developmental delay, skeletal and cardiac anomalies. To date, 40 patients have...
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