dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Yeste Fernandez, Diego |
dc.contributor.author | aguilar-riera, cristina |
dc.contributor.author | Canestrino, Gennaro |
dc.contributor.author | Fernández Álvarez, Paula |
dc.contributor.author | Clemente Leon, Maria |
dc.contributor.author | Camats Tarruella, Núria |
dc.date.accessioned | 2022-09-19T08:08:17Z |
dc.date.available | 2022-09-19T08:08:17Z |
dc.date.issued | 2022-06-28 |
dc.identifier.citation | Yeste 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.issn | 1664-2392 |
dc.identifier.uri | https://hdl.handle.net/11351/8212 |
dc.description | Gen MAMLD1; Hipospadias; Minipubertad |
dc.language.iso | eng |
dc.publisher | Frontiers Media |
dc.relation.ispartofseries | Frontiers in Endocrinology;13 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Hipogonadisme |
dc.subject | Cromosomes sexuals - Anomalies |
dc.subject | Aparell genital masculí |
dc.subject.mesh | Hypogonadism |
dc.subject.mesh | Sexual Development |
dc.subject.mesh | Penis |
dc.subject.mesh | /abnormalities |
dc.title | A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3389/fendo.2022.884107 |
dc.subject.decs | hipogonadismo |
dc.subject.decs | desarrollo sexual |
dc.subject.decs | pene |
dc.subject.decs | /anomalías |
dc.relation.publishversion | https://doi.org/10.3389/fendo.2022.884107 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut 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.pmid | 35837313 |
dc.identifier.wos | 000824171000001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |