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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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