Llwytho...

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription

BACKGROUND: The deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations. METHODS: We describe a 6‐year‐old child with a 12‐Mb deletion of the region 7q...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Di Stolfo, Giuseppe, Accadia, Maria, Mastroianno, Sandra, Leone, Maria P., Palumbo, Orazio, Palumbo, Pietro, Potenza, Domenico, Maccarone, Pasquale, Sacco, Michele, Russo, Aldo, Carella, Massimo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732270/
https://ncbi.nlm.nih.gov/pubmed/31347270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.855
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