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22q11.2 Microduplication: An Enigmatic Genetic Disorder

Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the cases that are diagnosed, the phenotype is extremely variabl...

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Détails bibliographiques
Publié dans:J Pediatr Genet
Auteur principal: Kylat, Ranjit I.
Format: Artigo
Langue:Inglês
Publié: Georg Thieme Verlag KG 2018
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6087476/
https://ncbi.nlm.nih.gov/pubmed/30105124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1655754
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