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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...

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Autori principali: Halder, Ashutosh, Jain, Manish, Kabra, Madhulika, Gupta, Neerja
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2527005/
https://ncbi.nlm.nih.gov/pubmed/18691436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-1-18
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