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Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects.
Joustra, Sjoerd D; Kamp, Gerdine A; Stalman, Susanne E; Donze, Stephany H; Losekoot, Monique; Kant, Sarina G; de Bruin, Christiaan; Oostdijk, Wilma; Wit, Jan M.
Afiliação
  • Joustra SD; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands, sdjoustra@lumc.nl.
  • Kamp GA; Department of Pediatric Endocrinology, Tergooi Hospital, Blaricum, The Netherlands.
  • Stalman SE; Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, The Netherlands.
  • Donze SH; Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Losekoot M; Dutch Growth Research Foundation, Rotterdam, The Netherlands.
  • Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • de Bruin C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Oostdijk W; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
  • Wit JM; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Horm Res Paediatr ; 92(6): 372-381, 2019.
Article em En | MEDLINE | ID: mdl-32344414
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequência de Bases / Elementos Facilitadores Genéticos / Deleção de Sequência / Haploinsuficiência / Proteína de Homoeobox de Baixa Estatura / Transtornos do Crescimento Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequência de Bases / Elementos Facilitadores Genéticos / Deleção de Sequência / Haploinsuficiência / Proteína de Homoeobox de Baixa Estatura / Transtornos do Crescimento Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article