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Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Beck, Natalie M; Sagaser, Katelynn G; Lawson, Cathleen S; Hertenstein, Christine; Jachens, Ashley; Forster, Katherine R; Miller, Kristen A; Jelin, Angie C; Blakemore, Karin J; Hoover-Fong, Julie.
Afiliação
  • Beck NM; Greenberg Center for Skeletal Dysplasias, Department Genetic of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Sagaser KG; Genome Medical Services, San Francisco, California, USA.
  • Lawson CS; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Hertenstein C; JunoDx, San Diego, California, USA.
  • Jachens A; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Forster KR; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Miller KA; Center for Maternal and Fetal Medicine, Howard County General Hospital, Johns Hopkins Hospital, Baltimore, Maryland, USA.
  • Jelin AC; Center for Fetal Therapy, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Blakemore KJ; Sibley Memorial Hospital Maternal Fetal Medicine, Washington, District of Columbia, USA.
  • Hoover-Fong J; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Mol Genet Genomic Med ; 11(1): e2056, 2023 01.
Article em En | MEDLINE | ID: mdl-36444396
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfatase Alcalina / Hipofosfatasia Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfatase Alcalina / Hipofosfatasia Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article