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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Autor: Makrythanasis P., van Bon B. W., Steehouwer M., Rodriguez-Santiago B., Simpson M., Dias P., Anderlid B. M., Arts P., Bhat M., Augello B., Biamino E., Bongers E. M. H. F., del Campo M., Cordeiro I., Cueto-Gonzalez A. M., Cusco I., Deshpande C., Frysira E., Izatt L., Flores R., Galan E., Gener B., Gilissen C., Granneman S. M., Hoyer J.

Publikováno v: CLINICAL GENETICS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=snsf_p3_pubs::8000c495bbfd9fc7d648d3d687038940

Genotype-phenotype correlation of coffin-siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

Autor: Kosho, T., Okamoto, N., Imai, Y., Ohashi, H., van Eerde, A. M., Chrzanowska, K., Clayton-Smith, J., Kingston, H., Mari, F., Aggarwal, S., Mowat, D., Niikawa, N., Hiraki, Y., Matsumoto, N., Fukushima, Y., Josifova, D., Dean, J., Smigiel, R., Sakazume, S., Silengo, M., Tinschert, S., Kawame, H., Yano, S., Yamagata, T., van Bon, B. W. M., Vulto-van Silfhout, A. T., Ben-Omran, T., Bigoni, S., Alanay, Y., Miyake, N., Tsurusaki, Y., Santen, G. W. E., Wieczorek, D., Wollnik, B., Hennekam, R. C. M.

Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the BAF complex. To date, 109 patients have been reported with their mutations: SMARCB1 (12%), SM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a228f8b7541cbb1930efda7147ed9c9d
http://hdl.handle.net/11365/1078708

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

Autor: Oeffner F, Martinez F, Schaffer J, Salhi A, Monfort S, Oltra S, Neidel U, Bornholdt D, van Bon B, König A, Happle R, Grzeschik KH

Publikováno v: EXPERIMENTAL DERMATOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome is an X-linked genodermatosis with congenital atrichia being the most prominent feature. Recently, we have shown that functional deficiency of MBTPS2 (membrane-bound transcription fact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::31d6991f9a9591d07ba8f68678b85015
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3796