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A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

BACKGROUND: Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in marked growth restriction, severe intellectual disability, and absent or severe...

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書目詳細資料
發表在:BMC Med Genomics
Main Authors: Maldžienė, Živilė, Vaitėnienė, Evelina M., Aleksiūnienė, Beata, Utkus, Algirdas, Preikšaitienė, Eglė
格式: Artigo
語言:Inglês
出版: BioMed Central 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7160938/
https://ncbi.nlm.nih.gov/pubmed/32299451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-0711-4
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