Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.

Detalles Bibliográficos
Autores principales: Valsassina, Rita, Briosa, Filipa, Soares, Joana, Amorim, Marta, Limbert, Catarina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752585/
https://www.ncbi.nlm.nih.gov/pubmed/33363893
http://dx.doi.org/10.1002/ccr3.3370
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author Valsassina, Rita
Briosa, Filipa
Soares, Joana
Amorim, Marta
Limbert, Catarina
author_facet Valsassina, Rita
Briosa, Filipa
Soares, Joana
Amorim, Marta
Limbert, Catarina
author_sort Valsassina, Rita
collection PubMed
description The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.
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spelling pubmed-77525852020-12-23 Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings Valsassina, Rita Briosa, Filipa Soares, Joana Amorim, Marta Limbert, Catarina Clin Case Rep Case Reports The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family. John Wiley and Sons Inc. 2020-09-22 /pmc/articles/PMC7752585/ /pubmed/33363893 http://dx.doi.org/10.1002/ccr3.3370 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Valsassina, Rita
Briosa, Filipa
Soares, Joana
Amorim, Marta
Limbert, Catarina
Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title_full Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title_fullStr Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title_full_unstemmed Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title_short Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
title_sort hypogonadotropic hypogonadism due to compound heterozygous mutations tacr3 in siblings
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752585/
https://www.ncbi.nlm.nih.gov/pubmed/33363893
http://dx.doi.org/10.1002/ccr3.3370
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AT soaresjoana hypogonadotropichypogonadismduetocompoundheterozygousmutationstacr3insiblings
AT amorimmarta hypogonadotropichypogonadismduetocompoundheterozygousmutationstacr3insiblings
AT limbertcatarina hypogonadotropichypogonadismduetocompoundheterozygousmutationstacr3insiblings

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