Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or...

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Autores principales: Chinen, Yasutsugu, Nakamura, Sadao, Yanagi, Kumiko, Kaneshi, Takuya, Goya, Hideki, Yoshida, Tomohide, Satou, Kazuhito, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
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/PMC8971417/
https://www.ncbi.nlm.nih.gov/pubmed/35361766
http://dx.doi.org/10.1038/s41439-022-00187-9
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author Chinen, Yasutsugu
Nakamura, Sadao
Yanagi, Kumiko
Kaneshi, Takuya
Goya, Hideki
Yoshida, Tomohide
Satou, Kazuhito
Kaname, Tadashi
Naritomi, Kenji
Nakanishi, Koichi
author_facet Chinen, Yasutsugu
Nakamura, Sadao
Yanagi, Kumiko
Kaneshi, Takuya
Goya, Hideki
Yoshida, Tomohide
Satou, Kazuhito
Kaname, Tadashi
Naritomi, Kenji
Nakanishi, Koichi
author_sort Chinen, Yasutsugu
collection PubMed
description We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or without cleft lip/palate and polydactyly with no genetic information. Careful attention should be given to the interpretation of this rare pattern.
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spelling pubmed-89714172022-04-20 Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI Chinen, Yasutsugu Nakamura, Sadao Yanagi, Kumiko Kaneshi, Takuya Goya, Hideki Yoshida, Tomohide Satou, Kazuhito Kaname, Tadashi Naritomi, Kenji Nakanishi, Koichi Hum Genome Var Data Report We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or without cleft lip/palate and polydactyly with no genetic information. Careful attention should be given to the interpretation of this rare pattern. Nature Publishing Group UK 2022-03-31 /pmc/articles/PMC8971417/ /pubmed/35361766 http://dx.doi.org/10.1038/s41439-022-00187-9 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
Chinen, Yasutsugu
Nakamura, Sadao
Yanagi, Kumiko
Kaneshi, Takuya
Goya, Hideki
Yoshida, Tomohide
Satou, Kazuhito
Kaname, Tadashi
Naritomi, Kenji
Nakanishi, Koichi
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
title Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
title_full Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
title_fullStr Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
title_full_unstemmed Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
title_short Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
title_sort additional findings of tibial dysplasia in a male with orofaciodigital syndrome type xvi
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8971417/
https://www.ncbi.nlm.nih.gov/pubmed/35361766
http://dx.doi.org/10.1038/s41439-022-00187-9
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