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Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49.
Garcia, Aubin; Legendre, Marie; Chantot-Bastaraud, Sandra; Siffroi, Jean-Pierre; Christin-Maitre, Sophie.
Affiliation
  • Garcia A; Service d'endocrinologie diabétologie et médecine de la reproduction, centre constitutif des maladies endocriniennes rares de la croissance, hôpital Saint-Antoine, AP-HP, 75012 Paris, France. Electronic address: aubin.garcia@aphp.fr.
  • Legendre M; U.F. de génétique moléculaire, département de génétique médicale, Sorbonne Université, hôpital Trousseau, AP-HP, Paris, France; Inserm, Childhood genetic disorders, UMRS 933, Sorbonne Université, hôpital Trousseau, 75012 Paris, France. Electronic address: marie.legendre@aphp.fr.
  • Chantot-Bastaraud S; Inserm, Childhood genetic disorders, UMRS 933, Sorbonne Université, hôpital Trousseau, 75012 Paris, France; U.F. de génétique chromosomique, département de génétique médicale, Sorbonne Université, hôpital Trousseau, AP-HP, Paris, France. Electronic address: sandra.chantot-bastaraud@aphp.fr.
  • Siffroi JP; Inserm, Childhood genetic disorders, UMRS 933, Sorbonne Université, hôpital Trousseau, 75012 Paris, France; U.F. de génétique chromosomique, département de génétique médicale, Sorbonne Université, hôpital Trousseau, AP-HP, Paris, France. Electronic address: jean-pierre.siffroi@aphp.fr.
  • Christin-Maitre S; Service d'endocrinologie diabétologie et médecine de la reproduction, centre constitutif des maladies endocriniennes rares de la croissance, hôpital Saint-Antoine, AP-HP, 75012 Paris, France; Inserm, Childhood genetic disorders, UMRS 933, Sorbonne Université, hôpital Trousseau, 75012 Paris, France.
Ann Endocrinol (Paris) ; 84(2): 260-264, 2023 Apr.
Article in En | MEDLINE | ID: mdl-35065919
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Disorder of Sex Development, 46,XY / Intellectual Disability Limits: Female / Humans / Male Language: En Journal: Ann Endocrinol (Paris) Year: 2023 Document type: Article Country of publication: Francia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Disorder of Sex Development, 46,XY / Intellectual Disability Limits: Female / Humans / Male Language: En Journal: Ann Endocrinol (Paris) Year: 2023 Document type: Article Country of publication: Francia