Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female

BACKGROUND: We present a patient with Rett syndrome (RTT; MECP2) and autosomal‐recessive succinic semialdehyde dehydrogenase deficiency (SSADHD; ALDH5A1 (aldehyde dehydrogenase 5a1 = SSADH), in whom the current phenotype exhibits features of SSADHD (hypotonia, global developmental delay) and RTT (ha...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Brown, Madalyn, Ashcraft, Paula, Arning, Erland, Bottiglieri, Teodoro, McClintock, William, Giancola, Frank, Lieberman, David, Hauser, Natalie S., Miller, Rebecca, Roullet, Jean‐Baptiste, Pearl, Phillip, Gibson, K. Michael
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503008/
https://ncbi.nlm.nih.gov/pubmed/30829465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.629
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