Disease: Borrone Di Rocco Crovato syndrome
- A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome?
- A Novel Cell-Based Model for a Rare Disease: The Tks4-KO Human Embryonic Stem Cell Line as a Frank-Ter Haar Syndrome Model System
- A novel gene mutation for multicentric osteolysis nodulosis and arthropathy: Case report and review of literature
- A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma
- A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum
- Absence of Scaffold Protein Tks4 Disrupts Several Signaling Pathways in Colon Cancer Cells
- Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes
- Anaesthesia and orphan diseases: difficult tracheal intubation in a child with Frank-ter Haar syndrome
- Anesthetic management of scoliosis operation in a pediatric patient with Frank-ter Haar syndrome: a case report
- Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b
- Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report
- Common dental features and craniofacial development of three siblings with Ter Haar syndrome
- Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome
- Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome
- EGF Regulates the Interaction of Tks4 with Src through Its SH2 and SH3 Domains
- Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome
- Frank-Ter Haar Syndrome
- Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
- Frank-Ter Haar syndrome in a newborn
- Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration
- Frank-ter Haar syndrome with unusual clinical features
- Frank-ter Haar syndrome--additional findings?
- Further delineation of Frank-ter Haar syndrome
- Human Genetics of Ventricular Septal Defect
- Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature
- Mitral valve repair in a patient with Ter Haar Syndrome
- Morphological Changes Induced by TKS4 Deficiency Can Be Reversed by EZH2 Inhibition in Colorectal Carcinoma Cells
- Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations
- Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling
- Multiple facial angiofibromas: A manifestation of Frank-ter Haar syndrome?
- Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome
- Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome
- Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair
- Retinal detachment in a child with Frank-ter Haar syndrome
- Siblings with glaucoma, mental retardation and short stature
- Significance of the Tks4 scaffold protein in bone tissue homeostasis
- Ter Haar syndrome
- The novel zebrafish model <em>pretzel</em> demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome
- The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome
- The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome
- The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages
- Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family