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Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg.
Schmidt, Lindsey; Wain, Karen E; Hajek, Catherine; Estrada-Veras, Juvianee I; Guillen Sacoto, Maria J; Wentzensen, Ingrid M; Malhotra, Alka; Clause, Amanda; Perry, Denise; Moreno-De-Luca, Andres; Bell, Megan.
Afiliação
  • Schmidt L; Sanford Health, Augustana-Sanford Genetic Counseling Program, Sioux Falls, South Dakota, USA.
  • Wain KE; Geisinger Autism & Developmental Medicine Institute, Lewisburg, Pennsylvania, USA.
  • Hajek C; Sanford Health, Sioux Falls, South Dakota, USA.
  • Estrada-Veras JI; Henry M Jackson Foundation for the Advancement of Military Medicine and Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
  • Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA.
  • Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA.
  • Malhotra A; Illumina Clinical Services Laboratory, San Diego, California, USA.
  • Clause A; Illumina Clinical Services Laboratory, San Diego, California, USA.
  • Perry D; Illumina Clinical Services Laboratory, San Diego, California, USA.
  • Moreno-De-Luca A; Department of Radiology, Geisinger Autism & Developmental Medicine Institute, Genomic Medicine Institute, Lewisburg, Pennsylvania, USA.
  • Bell M; Sanford Health, Sioux Falls, South Dakota, USA.
Mol Syndromol ; 12(1): 33-40, 2021 Mar.
Article em En | MEDLINE | ID: mdl-33776625
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article