De novo loss-of-function variant in PTDSS1 is associated with developmental delay.

Gracie, Sara; Sengupta, Nivedita; Ferreira, Carlos; Pemberton, Joshua; Anderson, Ilse; Wang, Xin; Rhodes, Lindsay; Brown, Kathleen; Balla, Tamas; Larson, Austin

Gracie, Sara; Sengupta, Nivedita; Ferreira, Carlos; Pemberton, Joshua; Anderson, Ilse; Wang, Xin; Rhodes, Lindsay; Brown, Kathleen; Balla, Tamas; Larson, Austin.

Afiliação

Gracie S; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.
Sengupta N; Section on Molecular Signal Transduction, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Ferreira C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Pemberton J; Section on Molecular Signal Transduction, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Anderson I; University of Tennessee Graduate School of Medicine, Knoxville, Tennessee, USA.
Wang X; GeneDx, Gaithersburg, Maryland, USA.
Rhodes L; GeneDx, Gaithersburg, Maryland, USA.
Brown K; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.
Balla T; Section on Molecular Signal Transduction, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Larson A; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.

Am J Med Genet A ; 188(6): 1739-1745, 2022 06.

Article em En | MEDLINE | ID: mdl-35224839

Assuntos

Anormalidades Múltiplas; Doenças do Desenvolvimento Ósseo; Deficiência Intelectual; Transtornos do Neurodesenvolvimento; Anormalidades Múltiplas/genética; Doenças do Desenvolvimento Ósseo/genética; Células HEK293; Humanos; Deficiência Intelectual/genética; Transtornos do Neurodesenvolvimento/genética; Fenótipo

Palavras-chave

PTDSS1; autism spectrum disorder; developmental delay; phosphatidylserine

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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