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Frank-ter Haar syndrome--additional findings?
Köse TE, İşler C, Şenel ŞN, Şitilci T, Özcan İ, Aksakallı N. Köse TE, et al. Dentomaxillofac Radiol. 2016;45(2):20150119. doi: 10.1259/dmfr.20150119. Dentomaxillofac Radiol. 2016. PMID: 26582053 Free PMC article.
Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, heart defects, developmental delays, brachycephaly, a wide anterior fonta …
Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteris …
Frank-Ter Haar syndrome in a newborn.
Femitha P, Joy R, Gane BD, Adhisivam B, Bhat BV. Femitha P, et al. Indian J Pediatr. 2012 Aug;79(8):1091-3. doi: 10.1007/s12098-011-0599-2. Epub 2011 Oct 29. Indian J Pediatr. 2012. PMID: 22037860 Review.
Frank-Ter Haar syndrome is an unusual type of skeletal dysplasia with megalocornea and developmental delay. ...
Frank-Ter Haar syndrome is an unusual type of skeletal dysplasia with megalocornea and developmental delay. ...
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
Durand B, Stoetzel C, Schaefer E, Calmels N, Scheidecker S, Kempf N, De Melo C, Guilbert AS, Timbolschi D, Donato L, Astruc D, Sauer A, Antal MC, Dollfus H, El Chehadeh S. Durand B, et al. Eur J Med Genet. 2020 Apr;63(4):103857. doi: 10.1016/j.ejmg.2020.103857. Epub 2020 Jan 21. Eur J Med Genet. 2020. PMID: 31978614 Review.
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. ...
Frank-ter Haar syndrome (FTHS) is a rare autosomal recessive syndrome resulting from mutations in the SH3PXD2B g …
Frank-Ter Haar Syndrome.
Saeed M, Shair QA, Saleem SM. Saeed M, et al. J Coll Physicians Surg Pak. 2011 Apr;21(4):252-3. J Coll Physicians Surg Pak. 2011. PMID: 21453629
Frank-Ter Haar Syndrome (FTHS) is a rare hereditary inherited disorder with many abnormalities. The main clinical features are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full …
Frank-Ter Haar Syndrome (FTHS) is a rare hereditary inherited disorder with many abnormalities. The main clinica …
Further delineation of Frank-ter Haar syndrome.
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC. Maas SM, et al. Am J Med Genet A. 2004 Dec 1;131(2):127-33. doi: 10.1002/ajmg.a.30244. Am J Med Genet A. 2004. PMID: 15523657 Review.
Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration.
Bögel G, Gujdár A, Geiszt M, Lányi Á, Fekete A, Sipeki S, Downward J, Buday L. Bögel G, et al. J Biol Chem. 2012 Sep 7;287(37):31321-9. doi: 10.1074/jbc.M111.324897. Epub 2012 Jul 24. J Biol Chem. 2012. PMID: 22829589 Free PMC article.
Mutations in the SH3PXD2B gene coding for the Tks4 protein are responsible for the autosomal recessive Frank-ter Haar syndrome. Tks4, a substrate of Src tyrosine kinase, is implicated in the regulation of podosome formation. ...Furthermore, a PX domain …
Mutations in the SH3PXD2B gene coding for the Tks4 protein are responsible for the autosomal recessive Frank-ter Haar …
Multiple facial angiofibromas: A manifestation of Frank-ter Haar syndrome?
Borroni RG, Piscazzi F, Valenti M, Rimoldi V, Barile M, Bianchi P, Favaro R, Formai A, Selicorni A, Manara S, Vinci V, Lania AG, Costanzo A. Borroni RG, et al. Am J Med Genet A. 2023 Aug;191(8):2249-2251. doi: 10.1002/ajmg.a.63231. Epub 2023 May 4. Am J Med Genet A. 2023. PMID: 37141407 No abstract available.
Frank-ter Haar syndrome with unusual clinical features.
Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan AO, Ozkul Y. Dundar M, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):247-9. doi: 10.1016/j.ejmg.2009.03.005. Epub 2009 Mar 19. Eur J Med Genet. 2009. PMID: 19303467
Frank-ter Haar syndrome first recognized by Frank et al. [Y. Frank, M. ...Kayserili, J. Lam, M.Y. Apak, R.C. Hennekam, Further delineation of Frank-ter Haar syndrome, Am. J. Med. Genet. 131 (2004) 127-133.]. ...
Frank-ter Haar syndrome first recognized by Frank et al. [Y. Frank, M. ...Kayserili, J. Lam, M.Y. Apak, R.C. Hen …
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
Bendon CL, Fenwick AL, Hurst JA, Nürnberg G, Nürnberg P, Wall SA, Wilkie AO, Johnson D. Bendon CL, et al. BMC Med Genet. 2012 Nov 9;13:104. doi: 10.1186/1471-2350-13-104. BMC Med Genet. 2012. PMID: 23140272 Free PMC article.
The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. ...The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank …
The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B ge …
Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.
Zrhidri A, Jaouad IC, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A. Zrhidri A, et al. Gene. 2017 Sep 10;628:190-193. doi: 10.1016/j.gene.2017.07.011. Epub 2017 Jul 8. Gene. 2017. PMID: 28694206 Review.
BACKGROUND: Frank-Ter Haar syndrome (FTHS) is an autosomal-recessive disorder characterized by skeletal, cardio-vascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and hypertelorism. The most common underlying genet …
BACKGROUND: Frank-Ter Haar syndrome (FTHS) is an autosomal-recessive disorder characterized by skeletal, cardio- …
39 results