Disruption of Chromodomain Helicase DNA Binding Protein 2 (CHD2) Causes Scoliosis

Herein we characterize an apparently balanced de novo translocation, t(X;15)(p22.2;q26.1)dn, in a female patient with scoliosis, hirsutism, learning problems, and developmental delay (DGAP025). Other clinical findings include a high-arched palate, 2–3 syndactyly of the toes, and mildly elevated seru...

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Bibliografiset tiedot
Päätekijät: Kulkarni, Shashikant, Nagarajan, Prabakaran, Wall, Jonathan, Donovan, Diana J., Donell, Robert L., Ligon, Azra H., Venkatachalam, Sundaresan, Quade, Bradley J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2008
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2834558/
https://ncbi.nlm.nih.gov/pubmed/18386809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32178
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