Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3

Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented...

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Autores principales: Watanabe, Keisuke, Noguchi, Atsuko, Takahashi, Ikuko, Yamada, Mamiko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro, Takahashi, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184466/
https://www.ncbi.nlm.nih.gov/pubmed/35680838
http://dx.doi.org/10.1038/s41439-022-00196-8
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author Watanabe, Keisuke
Noguchi, Atsuko
Takahashi, Ikuko
Yamada, Mamiko
Suzuki, Hisato
Takenouchi, Toshiki
Kosaki, Kenjiro
Takahashi, Tsutomu
author_facet Watanabe, Keisuke
Noguchi, Atsuko
Takahashi, Ikuko
Yamada, Mamiko
Suzuki, Hisato
Takenouchi, Toshiki
Kosaki, Kenjiro
Takahashi, Tsutomu
author_sort Watanabe, Keisuke
collection PubMed
description Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented with precocious puberty, mostly evaluated as advanced pubertal age of 15 years at the chronological age of 11.5 years.
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spelling pubmed-91844662022-06-11 Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3 Watanabe, Keisuke Noguchi, Atsuko Takahashi, Ikuko Yamada, Mamiko Suzuki, Hisato Takenouchi, Toshiki Kosaki, Kenjiro Takahashi, Tsutomu Hum Genome Var Data Report Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented with precocious puberty, mostly evaluated as advanced pubertal age of 15 years at the chronological age of 11.5 years. Nature Publishing Group UK 2022-06-09 /pmc/articles/PMC9184466/ /pubmed/35680838 http://dx.doi.org/10.1038/s41439-022-00196-8 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Watanabe, Keisuke
Noguchi, Atsuko
Takahashi, Ikuko
Yamada, Mamiko
Suzuki, Hisato
Takenouchi, Toshiki
Kosaki, Kenjiro
Takahashi, Tsutomu
Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
title Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
title_full Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
title_fullStr Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
title_full_unstemmed Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
title_short Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
title_sort precocious puberty in a case of simpson–golabi–behmel syndrome with a de novo 240-kb deletion including gpc3
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184466/
https://www.ncbi.nlm.nih.gov/pubmed/35680838
http://dx.doi.org/10.1038/s41439-022-00196-8
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