Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Abreu, Ana Paula; Dauber, Andrew; Macedo, Delanie B; Noel, Sekoni D; Brito, Vinicius N; Gill, John C; Cukier, Priscilla; Thompson, Iain R; Navarro, Victor M; Gagliardi, Priscila C; Rodrigues, Tânia; Kochi, Cristiane; Longui, Carlos Alberto; Beckers, Dominique; de Zegher, Francis; Montenegro, Luciana R; Mendonca, Berenice B; Carroll, Rona S; Hirschhorn, Joel N; Latronico, Ana Claudia; Kaiser, Ursula B

Abreu, Ana Paula; Dauber, Andrew; Macedo, Delanie B; Noel, Sekoni D; Brito, Vinicius N; Gill, John C; Cukier, Priscilla; Thompson, Iain R; Navarro, Victor M; Gagliardi, Priscila C; Rodrigues, Tânia; Kochi, Cristiane; Longui, Carlos Alberto; Beckers, Dominique; de Zegher, Francis; Montenegro, Luciana R; Mendonca, Berenice B; Carroll, Rona S; Hirschhorn, Joel N; Latronico, Ana Claudia; Kaiser, Ursula B.

Affiliation

Abreu AP; Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, USA.

N Engl J Med ; 368(26): 2467-75, 2013 Jun 27.

Article in En | MEDLINE | ID: mdl-23738509

Subject(s)

Frameshift Mutation; Mutation, Missense; Puberty, Precocious/genetics; Ribonucleoproteins/genetics; Animals; Arcuate Nucleus of Hypothalamus/chemistry; Child; Child, Preschool; Exome; Female; Genetic Association Studies; Heterozygote; Humans; Hypothalamus/metabolism; Male; Mice; Pedigree; RNA, Messenger/analysis; Ribonucleoproteins/deficiency; Sequence Analysis, DNA; Ubiquitin-Protein Ligases

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Puberty, Precocious / Ribonucleoproteins / Frameshift Mutation / Mutation, Missense Type of study: Prognostic_studies Limits: Animals / Child / Child, preschool / Female / Humans / Male Language: En Journal: N Engl J Med Year: 2013 Type: Article Affiliation country: United States

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