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Infantile presentation of 3q26.33-3q27.2 deletion syndrome

A very rare syndrome, 3q26.33-3q27. 2 microdeletion, has only been described in seven case reports previously, all of which highlight genotypic and phenotypic variations of the presentations identified in school-aged and adolescent children. The patients in these cases had varying sized deletions bu...

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書目詳細資料
發表在:BMJ Case Rep
Main Authors: Robilliard, Renee, Caylan, Mustafa
格式: Artigo
語言:Inglês
出版: BMJ Publishing Group 2020
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7705523/
https://ncbi.nlm.nih.gov/pubmed/33257348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-233215
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