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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...
Autor principal: | Phelan, Mary C |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427010/ https://www.ncbi.nlm.nih.gov/pubmed/18505557 http://dx.doi.org/10.1186/1750-1172-3-14 |
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