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A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.
Heddar, Abdelkader; Beckers, Dominique; Fouquet, Baptiste; Roland, Dominique; Misrahi, Micheline.
Affiliation
  • Heddar A; Universités Paris Sud, Paris Saclay, Faculté de Médecine; Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction, Hôpitaux Universitaires Paris-Sud, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, France.
  • Beckers D; Université catholique de Louvain, CHU UCL Namur, Pediatric Endocrinology, Yvoir, Belgium.
  • Fouquet B; Universités Paris Sud, Paris Saclay, Faculté de Médecine; Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction, Hôpitaux Universitaires Paris-Sud, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, France.
  • Roland D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Misrahi M; Universités Paris Sud, Paris Saclay, Faculté de Médecine; Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction, Hôpitaux Universitaires Paris-Sud, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, France.
J Clin Endocrinol Metab ; 105(6)2020 06 01.
Article in En | MEDLINE | ID: mdl-32242235
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Full text: 1 Database: MEDLINE Main subject: Skin Neoplasms / Primary Ovarian Insufficiency / Pilomatrixoma / Minichromosome Maintenance Proteins / Growth Disorders / Hair Diseases / Mutation Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Skin Neoplasms / Primary Ovarian Insufficiency / Pilomatrixoma / Minichromosome Maintenance Proteins / Growth Disorders / Hair Diseases / Mutation Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Year: 2020 Type: Article