A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly

Detalles Bibliográficos
Autores principales: Uchida, Noboru, Mizuno, Yusuke, Seno, Shohei, Koyama, Yutaro, Takahashi, Tsutomu, Shibata, Hironori, Narumi, Satoshi, Hasegawa, Tomonobu, Ishii, Tomohiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2022
Materias:
Mutation-in-Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887292/
https://www.ncbi.nlm.nih.gov/pubmed/36761495
http://dx.doi.org/10.1297/cpe.2022-0060
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author Uchida, Noboru
Mizuno, Yusuke
Seno, Shohei
Koyama, Yutaro
Takahashi, Tsutomu
Shibata, Hironori
Narumi, Satoshi
Hasegawa, Tomonobu
Ishii, Tomohiro
author_facet Uchida, Noboru
Mizuno, Yusuke
Seno, Shohei
Koyama, Yutaro
Takahashi, Tsutomu
Shibata, Hironori
Narumi, Satoshi
Hasegawa, Tomonobu
Ishii, Tomohiro
author_sort Uchida, Noboru
collection PubMed
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spelling pubmed-98872922023-02-08 A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly Uchida, Noboru Mizuno, Yusuke Seno, Shohei Koyama, Yutaro Takahashi, Tsutomu Shibata, Hironori Narumi, Satoshi Hasegawa, Tomonobu Ishii, Tomohiro Clin Pediatr Endocrinol Mutation-in-Brief The Japanese Society for Pediatric Endocrinology 2022-10-07 2023 /pmc/articles/PMC9887292/ /pubmed/36761495 http://dx.doi.org/10.1297/cpe.2022-0060 Text en 2023©The Japanese Society for Pediatric Endocrinology https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Mutation-in-Brief
Uchida, Noboru
Mizuno, Yusuke
Seno, Shohei
Koyama, Yutaro
Takahashi, Tsutomu
Shibata, Hironori
Narumi, Satoshi
Hasegawa, Tomonobu
Ishii, Tomohiro
A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
title A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
title_full A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
title_fullStr A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
title_full_unstemmed A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
title_short A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
title_sort novel missense variant of fgfr1 in a japanese girl with kallmann syndrome and holoprosencephaly
topic Mutation-in-Brief
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887292/
https://www.ncbi.nlm.nih.gov/pubmed/36761495
http://dx.doi.org/10.1297/cpe.2022-0060
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