Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

Chromosome 6q duplications have been documented repeatedly, allowing the delineation of a “6q duplication syndrome”, characterized by hypertelorism, downslanting palpebral fissures, tented upper lip, short neck, severe mental and growth retardation, and joint contractures. Most reported cases result...

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Bibliografiset tiedot
Päätekijät: Tabet, Anne-Claude, Aboura, Azzedine, Gérard, Marion, Pilorge, Marion, Dupont, Céline, Gadisseux, Jean-François, Hervy, Nadège, Pipiras, Eva, Delahaye, Andrée, Kanafani, Samia, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Wiley-Blackwell 2010
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2962443/
https://ncbi.nlm.nih.gov/pubmed/20583184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33433
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