A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report.
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| Title: | A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report. |
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| Authors: | Yeste D; Section of Paediatric Endocrinology, Vall d'Hebron University Hospital, Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Aguilar-Riera C; Section of Paediatric Endocrinology, Vall d'Hebron University Hospital, Barcelona, Spain., Canestrino G; Paediatric Endocrinology Service, Paediatric Service, Sant Joan de Déu Manresa Hospital, Manresa, Spain., Fernández-Alvarez P; Laboratory of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain., Clemente M; Section of Paediatric Endocrinology, Vall d'Hebron University Hospital, Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Camats-Tarruella N; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Growth and Development Research Group, Vall d'Hebron Research Institute, Vall d'Hebron University Hospital, Barcelona, Spain. |
| Source: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Jun 28; Vol. 13, pp. 884107. Date of Electronic Publication: 2022 Jun 28 (Print Publication: 2022). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-2392 |
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| DOI: | 10.3389/fendo.2022.884107 |
