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Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty

BACKGROUND: Chromosome 8p deletions are associated with a variety of conditions, including cardiac abnormalities, mental, behavioral problems with variable morphotype and genitourinary anomalies in boys. METHODS: We describe the follow‐up over almost 15 years of a boy who initially presented with pe...

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Detalles Bibliográficos
Autores principales:	Wagner‐Mahler, Kathy, Kurzenne, Jean‐Yves, Gastaud, Frederique, Hoflack, Marie, Panaia Ferrari, Patricia, Berard, Etienne, Giuliano, Fabienne, Karmous‐Benailly, Houda, Moceri, Pamela, Jouannelle, Celine, Bourcier, Marine, Robart, Elise, Morel, Yves
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418366/ https://www.ncbi.nlm.nih.gov/pubmed/30690934 http://dx.doi.org/10.1002/mgg3.558

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