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Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
Thiffault, Isabelle; Zuccarelli, Britton; Welsh, Holly; Yuan, Xuan; Farrow, Emily; Zellmer, Lee; Miller, Neil; Soden, Sarah; Abdelmoity, Ahmed; Brodsky, Robert A; Saunders, Carol.
Afiliação
  • Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA. ithiffault@cmh.edu.
  • Zuccarelli B; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO, USA. ithiffault@cmh.edu.
  • Welsh H; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA. ithiffault@cmh.edu.
  • Yuan X; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO, USA.
  • Farrow E; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO, USA.
  • Zellmer L; Johns Hopkins Division of Hematology, Baltimore, MD, USA.
  • Miller N; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA.
  • Soden S; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA.
  • Abdelmoity A; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA.
  • Brodsky RA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA.
  • Saunders C; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
BMC Med Genet ; 18(1): 124, 2017 11 02.
Article em En | MEDLINE | ID: mdl-29096607
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfotransferases / Anormalidades Múltiplas / Deficiências do Desenvolvimento / Predisposição Genética para Doença / Hipotonia Muscular / Mutação Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2017 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: Fosfotransferases / Anormalidades Múltiplas / Deficiências do Desenvolvimento / Predisposição Genética para Doença / Hipotonia Muscular / Mutação Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article