A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism

Detalles Bibliográficos
Autores principales: Tajima, Toshihiro, Oguma, Makiko
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/PMC8981044/
https://www.ncbi.nlm.nih.gov/pubmed/35431442
http://dx.doi.org/10.1297/cpe.2021-0071
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author Tajima, Toshihiro
Oguma, Makiko
author_facet Tajima, Toshihiro
Oguma, Makiko
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spelling pubmed-89810442022-04-15 A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism Tajima, Toshihiro Oguma, Makiko Clin Pediatr Endocrinol Mutation-in-Brief The Japanese Society for Pediatric Endocrinology 2022-01-14 2022 /pmc/articles/PMC8981044/ /pubmed/35431442 http://dx.doi.org/10.1297/cpe.2021-0071 Text en 2022©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
Tajima, Toshihiro
Oguma, Makiko
A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism
title A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism
title_full A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism
title_fullStr A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism
title_full_unstemmed A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism
title_short A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism
title_sort novel nonsense variant (p.arg1293ter) of the immunoglobulin superfamily 1 (igsf1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism
topic Mutation-in-Brief
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8981044/
https://www.ncbi.nlm.nih.gov/pubmed/35431442
http://dx.doi.org/10.1297/cpe.2021-0071
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