Publication
Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
| dc.contributor.author | Valsassina, R | |
| dc.contributor.author | Briosa, F | |
| dc.contributor.author | Soares, J | |
| dc.contributor.author | Amorim, M | |
| dc.contributor.author | Limbert, C | |
| dc.date.accessioned | 2021-01-22T16:07:15Z | |
| dc.date.available | 2021-01-22T16:07:15Z | |
| dc.date.issued | 2020-12 | |
| dc.description.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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Clin Case Rep . 2020 Sep 22;8(12):3126-3129 | pt_PT |
| dc.identifier.doi | 10.1002/ccr3.3370 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/3543 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | John Wiley & Sons Ltd | pt_PT |
| dc.subject | Hypogonadotropic | pt_PT |
| dc.subject | Hypogonadism | pt_PT |
| dc.subject | Heterozygous mutations TACR3 | pt_PT |
| dc.subject | Siblings | pt_PT |
| dc.subject | HDE END PED | pt_PT |
| dc.subject | HDE GEN | pt_PT |
| dc.title | Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 3129 | pt_PT |
| oaire.citation.issue | 12 | pt_PT |
| oaire.citation.startPage | 3126 | pt_PT |
| oaire.citation.title | Clinical case reports | pt_PT |
| oaire.citation.volume | 8 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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