Mandibulofacial Dysostosis with Microcephaly:Mutation and Database Update

Autor: Jenny Morton, Francine Pinheiro Favaro, Deborah J. Shears, Fabiola Quintero-Rivera, Art Grix, Shelagh Joss, Margaret H. Harr, Antonie D. Kline, William B. Dobyns, Vanesa López-González, Josh Silver, John C. Johnson, I. Karen Temple, Angela E. Scheuerle, Julie Lauzon, Jane Estrella, Amanda C. Smith, Himanshu Goel, Elaine H. Zackai, Judith Allanson, Ghayda M. Mirzaa, Matthew Osmond, Kym M. Boycott, Julie Richer, Taila Hartley, Matthew A. Lines, Laura A. Baker, Alasdair G. W. Hunter, Usha Kini, Johanna Martinezmoles, Louise C. Pyle, Cindy Hudson, Hanna Faghfoury, Susan M. White, Jiddeke M. van de Kamp, Megan R. Vanstone, Dorte L Lildballe, Dennis E. Bulman, Chantal F. Morel, Bitten Schönewolf-Greulich, Tabib Dabir, Cliff J Meldrum, Nick Barrowman, Maria Leine Guion-Almeida, Katrina M. Dipple, Ruobing Zou, Fleur S van Dijk, Lijia Huang, Pernille Axel Gregersen, Anthony Vandersteen, Amy S. Kimball, Karen W. Gripp

Publikováno v: Huang, L, Vanstone, M R, Hartley, T, Osmond, M, Barrowman, N, Allanson, J, Baker, L, Dabir, T A, Dipple, K M, Dobyns, W B, Estrella, J, Faghfoury, H, Favaro, F P, Goel, H, Gregersen, P A, Gripp, K W, Grix, A, Guion-Almeida, M L, Harr, M H, Hudson, C, Hunter, A G W, Johnson, J, Joss, S K, Kimball, A, Kini, U, Kline, A D, Lauzon, J, Lildballe, D L, López-González, V, Martinezmoles, J, Meldrum, C, Mirzaa, G M, Morel, C F, Morton, J E V, Pyle, L C, Quintero-Rivera, F, Richer, J, Scheuerle, A E, Schönewolf-Greulich, B, Shears, D J, Silver, J, Smith, A C, Temple, I K, van de Kamp, J M, van Dijk, F S, Vandersteen, A M, White, S M, Zackai, E H, Zou, R, Bulman, D E, Care4Rare Canada Consortium & UCLA Clinical Genomics Center 2016, ' Mandibulofacial Dysostosis with Microcephaly : Mutation and Database Update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924
Care4Rare Canada Consortium 2016, ' Mandibulofacial dysostosis with microcephaly : Mutation and database update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB7, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK,; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Consortium CC, Bulman DE1, Boycott KM, Lines MA. 2016, ' Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update ', Human Mutation, vol. 37, no. 2 . https://doi.org/10.1002/humu.22924

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c1db163302728a8b33ad72971076fcc
https://research.vumc.nl/en/publications/c8ea0851-1536-452e-81b0-89cf246d03b0

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Autor: Francine Pinheiro Favaro, Ezequiel Margarit, Josiane Souza, Antonio Richieri-Costa, Andrea M.J. Weiner, Stephen R.F. Twigg, Pablo Armas, Lucas Alvizi, Simon J. McGowan, Maria Leine Guion de Almeida, Salmo Raskin, Nora B. Calcaterra, Andrew O.M. Wilkie, Roseli Maria Zechi-Ceide, Têmis Maria Félix, Gregers R. Andersen, Débora Romeo Bertola, Maria Rita Passos-Bueno

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Favaro, F P, Alvizi, L, Zechi-Ceide, R M, Bertola, D, Felix, T M, de Souza, J, Raskin, S, Twigg, S R F, Weiner, A M J, Armas, P, Margarit, E, Calcaterra, N B, Andersen, G R, McGowan, S J, Wilkie, A O M, Richieri-Costa, A, de Almeida, M L G & Passos-Bueno, M R 2013, ' A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects ', American Journal of Human Genetics, vol. 94, no. 1, pp. 120-128 . https://doi.org/10.1016/j.ajhg.2013.11.020

Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b673463c4e8aab9f49d9535b66a8367b
http://www.sciencedirect.com/science/article/pii/S0002929713005351