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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorYeste Fernandez, Diego
dc.contributor.authorAguilar Riera, Cristina
dc.contributor.authorCanestrino, Gennaro
dc.contributor.authorFernández Álvarez, Paula
dc.contributor.authorClemente Leon, Maria
dc.contributor.authorCamats Tarruella, Nuria
dc.date.accessioned2022-09-19T08:08:17Z
dc.date.available2022-09-19T08:08:17Z
dc.date.issued2022-06-28
dc.identifier.citationYeste D, Aguilar-Riera C, Canestrino G, Fernández-Alvarez P, Clemente M, Camats-Tarruella N. A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report. Front Endocrinol. 2022 Jun 28;13:884107.
dc.identifier.issn1664-2392
dc.identifier.urihttp://hdl.handle.net/11351/8212
dc.descriptionGen MAMLD1; Hipospadias; Minipubertad
dc.language.isoeng
dc.publisherFrontiers Media
dc.relation.ispartofseriesFrontiers in Endocrinology;13
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectHipogonadisme
dc.subjectCromosomes sexuals - Anomalies
dc.subjectAparell genital masculí
dc.subject.meshHypogonadism
dc.subject.meshSexual Development
dc.subject.meshPenis
dc.subject.mesh/abnormalities
dc.titleA New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.3389/fendo.2022.884107
dc.subject.decshipogonadismo
dc.subject.decsdesarrollo sexual
dc.subject.decspene
dc.subject.decs/anomalías
dc.relation.publishversionhttps://doi.org/10.3389/fendo.2022.884107
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Yeste D, Clemente M] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. [Aguilar-Riera C] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Canestrino G] Paediatric Endocrinology Service, Paediatric Service, Sant Joan de Déu Manresa Hospital, Manresa, Spain. [Fernández-Alvarez P] Laboratori de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Camats-Tarruella N] CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. Grup de Recerca en Creixement i Desenvolupament, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.identifier.pmid35837313
dc.identifier.wos000824171000001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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