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Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consi...
Autores principales: | , , , |
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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/PMC2527005/ https://www.ncbi.nlm.nih.gov/pubmed/18691436 http://dx.doi.org/10.1186/1755-8166-1-18 |