dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Flück, Christa E. |
dc.contributor.author | Audí Parera, Laura |
dc.contributor.author | Fernández Cancio, Mónica |
dc.contributor.author | Sauter, Kay-Sara |
dc.contributor.author | Martinez de LaPiscina, Idoia |
dc.contributor.author | Camats Tarruella, Nuria |
dc.contributor.author | Castaño, Luis |
dc.date.accessioned | 2020-07-28T08:53:40Z |
dc.date.available | 2020-07-28T08:53:40Z |
dc.date.issued | 2019-08-29 |
dc.identifier.citation | Flück CE, Audí L, Fernández-Cancio M, Sauter KS, Martinez de LaPiscina I, Castaño L, et al. Broad phenotypes of disorders/differences of sex development in MAMLD1 patients through oligogenic disease. Front Genet. 2019 Aug 29;10:746. |
dc.identifier.issn | 1664-8021 |
dc.identifier.uri | https://hdl.handle.net/11351/5110 |
dc.description | MAMLD1; Trastornos/diferencias de desarrollo sexual; Hipospadias |
dc.language.iso | eng |
dc.publisher | Frontiers Media |
dc.relation.ispartofseries | Frontiers in Genetics;10 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Cromosomes sexuals - Anomalies |
dc.subject | Genètica - Tècnica |
dc.subject.mesh | Genetic Techniques |
dc.subject.mesh | Sex Chromosome Disorders of Sex Development |
dc.title | Broad phenotypes of disorders/differences of sex development in MAMLD1 patients through oligogenic disease |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3389/fgene.2019.00746 |
dc.subject.decs | técnicas genéticas |
dc.subject.decs | trastornos de los cromosomas sexuales del desarrollo sexual |
dc.relation.publishversion | https://www.frontiersin.org/articles/10.3389/fgene.2019.00746/full |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.authoraffiliation | [Flück CE, Sauter KS] Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics and Department of BioMedical Research, Bern University Hospital and University of Bern, Bern, Switzerland. [Audí L, Fernández-Cancio M, Camats N] Grup de Recerca en Creixement i Desenvolupament, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Martinez de LaPiscina I] Endocrinology and Diabetes Research Group, BioCruces Bizkaia Health Research Institute, Cruces University Hospital, CIBERDEM, CIBERER, University of the Basque Country (UPV-EHU), Barakaldo, Spain. [Castaño L] Pediatric Endocrinology Section, Cruces University Hospital, Endocrinology and Diabetes Research Group, BioCruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, University of the Basque Country (UPV-EHU), Barakaldo, Spain |
dc.identifier.pmid | 31555317 |
dc.identifier.wos | 000483038400001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |