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Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.
Vos, Niels; Menke, Leonie A; Mooij, Christiaan F; van den Akker, Erica L T; Alders, Mariëlle; van Haelst, Mieke M.
Afiliação
  • Vos N; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
  • Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
  • Mooij CF; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • van den Akker ELT; Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Alders M; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
  • van Haelst MM; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Am J Med Genet A ; 191(5): 1476-1478, 2023 05.
Article em En | MEDLINE | ID: mdl-36807968
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudo-Hipoparatireoidismo Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudo-Hipoparatireoidismo Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article