A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

BACKGROUND: Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype—phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 we...

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Päätekijät: Molin, A-M, Andrieux, J, Koolen, D A, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, A C, Le Caignec, C, Ogilvie, C Mackie, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L, Annerén, G
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2011
Aiheet:
Copy-Number Variations
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3261728/
https://ncbi.nlm.nih.gov/pubmed/22180640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100534
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