Central precocious puberty caused by mutations in the imprinted gene MKRN3

New England Journal of Medicine

Volumn 368, Issue 26, 2013, Pages 2467-2475

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

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

^f FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^g NEMOURS CHILDREN S CLINIC   (United States)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; FOLLITROPIN; GONADORELIN; LUTEINIZING HORMONE; MAKORIN RING FINGER PROTEIN 3; MESSENGER RNA; RING FINGER PROTEIN; TESTOSTERONE; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ARCUATE NUCLEUS; ARTICLE; CHILD; CHROMOSOME 15Q; CONTROLLED STUDY; ESTRADIOL BLOOD LEVEL; FEMALE; FOLLITROPIN BLOOD LEVEL; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HORMONE DETERMINATION; HUMAN; HUMAN CELL; HYPOTHALAMUS; INHERITANCE; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MISSENSE MUTATION; MKRN3 GENE; MOUSE; NONHUMAN; PRADER WILLI SYNDROME; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SEX RATIO; TESTOSTERONE BLOOD LEVEL;

EID: 84879344554     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1302160     Document Type: Article

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