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Cytogenomic Delineation and Clinical Follow-up of Two Siblings with an 8.5 Mb 6q24.2-q25.2 Deletion Inherited From a Paternal Insertion()

The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychol...

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Dettagli Bibliografici
Pubblicato in:Am J Med Genet A
Autori principali: Meloni, Vera Ayres, Guilherme, Roberta Santos, Oliveira, Mariana Moyses, Migliavacca, Michele, Takeno, Sylvia Satomi, Sobreira, Nara Lygia Macena, Soares, Maria de Fatima Faria, de Mello, Claudia Berlim, Melaragno, Maria Isabel
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4882109/
https://ncbi.nlm.nih.gov/pubmed/24898331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36631
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