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Deletion 22q13.3 syndrome

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occ...

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Dades bibliogràfiques
Autor principal: Phelan, Mary C
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2008
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427010/
https://ncbi.nlm.nih.gov/pubmed/18505557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-3-14
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