Loss of function of ADNP by an intragenic inversion.
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| Title: | Loss of function of ADNP by an intragenic inversion. |
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| Authors: | Georget M; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France. mathieu.georget@aphp.fr., Lejeune E; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., Buratti J; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., Servant E; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., le Guern E; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., Heron D; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière University Hospital, Paris, France., Keren B; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., de Sainte Agathe JM; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Aug; Vol. 31 (8), pp. 967-970. Date of Electronic Publication: 2023 Feb 24. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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