Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2023)

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American Journal of Medical Genetics Part AVolume 191, Issue 5 p. 1476-1478 CORRESPONDENCE Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion Niels Vos, Corresponding Author Niels Vos [email protected] orcid.org/0000-0001-6001-3426 Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands Correspondence Niels Vos, Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. Email: [email protected]Search for more papers by this authorLeonie A. Menke, Leonie A. Menke Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The NetherlandsSearch for more papers by this authorChristiaan F. Mooij, Christiaan F. Mooij Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorErica L. T. van den Akker, Erica L. T. van den Akker Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The NetherlandsSearch for more papers by this authorMariëlle Alders, Mariëlle Alders Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The NetherlandsSearch for more papers by this authorMieke M. van Haelst, Mieke M. van Haelst Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The NetherlandsSearch for more papers by this author Niels Vos, Corresponding Author Niels Vos [email protected] orcid.org/0000-0001-6001-3426 Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands Correspondence Niels Vos, Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. Email: [email protected]Search for more papers by this authorLeonie A. Menke, Leonie A. Menke Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The NetherlandsSearch for more papers by this authorChristiaan F. Mooij, Christiaan F. Mooij Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorErica L. T. van den Akker, Erica L. T. van den Akker Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The NetherlandsSearch for more papers by this authorMariëlle Alders, Mariëlle Alders Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The NetherlandsSearch for more papers by this authorMieke M. van Haelst, Mieke M. van Haelst Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The NetherlandsSearch for more papers by this author First published: 20 February 2023 https://doi.org/10.1002/ajmg.a.63154Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Bastepe, M., Fröhlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Körkkö, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., & Jüppner, H. (2003). Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. The Journal of Clinical Investigation, 112(8), 1255–1263. de Lange, I. M., Verrijn Stuart, A. A., van der Luijt, R. B., Ploos van Amstel, H. K., & van Haelst, M. M. (2016). Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion. American Journal of Medical Genetics. Part A, 170(9), 2431–2435. Sadikovic, B., Levy, M. A., Kerkhof, J., Aref-Eshghi, E., Schenkel, L., Stuart, A., McConkey, H., Henneman, P., Venema, A., Schwartz, C. E., Stevenson, R. E., Skinner, S. A., DuPont, B. R., Fletcher, R. S., Balci, T. B., Siu, V. M., Granadillo, J. L., Masters, J., Kadour, M., … Alders, M. (2021). Clinical epigenomics: Genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. Genetics in Medicine, 23(6), 1065–1074. Schönbeck, Y., Talma, H., van Dommelen, P., Bakker, B., Buitendijk, S. E., HiraSing, R. A., & van Buuren, S. (2013). The world's tallest nation has stopped growing taller: The height of Dutch children from 1955 to 2009. Pediatric Research, 73(3), 371–377. Talma, H., Schönbeck, Y., Bakker, B., Hirasing, R. A., & van Buuren, S. (2010). Groeidiagrammen 2010 Handleiding bij het meten en wegen van kinderen en het invullen van groeidiagrammen. TNO. Wilson, L. C., & Trembath, R. C. (1994). Albright's hereditary osteodystrophy. Journal of Medical Genetics, 31(10), 779–784. Volume191, Issue5May 2023Pages 1476-1478 ReferencesRelatedInformation
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pseudohypoparathyroidism,early‐onset early‐onset
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