Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

Rita Valsassina; Filipa Briosa; Joana Soares; Marta Amorim; Catarina Limbert

doi:10.1002/ccr3.3370

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

Rita Valsassina, Filipa Briosa^*, Joana Soares, Marta Amorim, Catarina Limbert

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	3126-3129
Number of pages	4
Journal	Clinical Case Reports
Volume	8
Issue number	12
DOIs	https://doi.org/10.1002/ccr3.3370
Publication status	Published - Dec 2020
Externally published	Yes

Keywords

Endocrinology and metabolic disorders
Genetics
Pediatrics and adolescent medicine

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10.1002/ccr3.3370Licence: CC BY

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title = "Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings",

abstract = "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.",

keywords = "Endocrinology and metabolic disorders, Genetics, Pediatrics and adolescent medicine",

author = "Rita Valsassina and Filipa Briosa and Joana Soares and Marta Amorim and Catarina Limbert",

note = "Publisher Copyright: {\textcopyright} 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd",

year = "2020",

month = dec,

doi = "10.1002/ccr3.3370",

language = "English",

volume = "8",

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TY - JOUR

T1 - Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

AU - Valsassina, Rita

AU - Briosa, Filipa

AU - Soares, Joana

AU - Amorim, Marta

AU - Limbert, Catarina

PY - 2020/12

Y1 - 2020/12

N2 - 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.

AB - 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.

KW - Endocrinology and metabolic disorders

KW - Genetics

KW - Pediatrics and adolescent medicine

UR - http://www.scopus.com/inward/record.url?scp=85091306007&partnerID=8YFLogxK

U2 - 10.1002/ccr3.3370

DO - 10.1002/ccr3.3370

M3 - Article

C2 - 33363893

AN - SCOPUS:85091306007

SN - 2050-0904

VL - 8

SP - 3126

EP - 3129

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 12

ER -

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

Abstract

Keywords

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