CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Hsu, Tina; Coughlin, Carrie C; Monaghan, Kristin G; Fiala, Elise; McKinstry, Robert C; Paciorkowski, Alex R; Shinawi, Marwan

Hsu, Tina; Coughlin, Carrie C; Monaghan, Kristin G; Fiala, Elise; McKinstry, Robert C; Paciorkowski, Alex R; Shinawi, Marwan.

Afiliação

Hsu T; Washington University School of Medicine, St Louis, MO, USA.
Coughlin CC; Division of Dermatology, Department of Medicine, Washington University School of Medicine, St Louis, MO, USA.
Monaghan KG; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
Fiala E; GeneDx, Gaithersburg, MD, USA.
McKinstry RC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
Paciorkowski AR; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
Shinawi M; Department of Radiology, Washington University School of Medicine, St Louis, MO, USA.

Child Neurol Open ; 4: 2329048X17733214, 2017.

Article em En | MEDLINE | ID: mdl-29051910

Palavras-chave

CEDNIK; SNAP29; developmental delay; ichthyosis; polymicrogyria

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Child Neurol Open Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

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