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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | 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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