Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 6, 2014, Pages

  Macedo, Delanie B ^a   Abreu, Ana Paula ^a,b   Reis, Ana Claudia S ^a,b   Montenegro, Luciana R ^a   Dauber, Andrew ^c,d   Beneduzzi, Daiane ^a   Cukier, Priscilla ^a   Silveira, Leticia F G ^a   Teles, Milena G ^a   Carroll, Rona S ^g   Junior, Gil Guerra ^e   Filho, Guilherme Guaragna ^e   Gucev, Zoran ^f   Arnhold, Ivo J P ^a   De Castro, Margaret ^a   Moreira, Ayrton C ^a   Martinelli Jr , Carlos Eduardo ^a   Hirschhorn, Joel N ^c,d   Mendonca, Berenice B ^a   Brito, Vinicius N ^a   Antonini, Sonir R ^a   Kaiser, Ursula B ^b   Latronico, Ana Claudia ^a   more..

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

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

^e UNIVERSITY OF CAMPINAS   (Brazil)

^f SS CYRIL AND METHODIUS UNIVERSITY OF SKOPJE   (Macedonia)

^g Medical Faculty Skopje ^*

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; FOLLITROPIN; LUTEINIZING HORMONE;

ARTICLE; CENTRAL PRECOCIOUS PUBERTY; CHILD; CHROMOSOME 15Q; COPY NUMBER VARIATION; DNA METHYLATION; DNA SEQUENCE; FEMALE; FIRST DEGREE RELATIVE; FRAMESHIFT MUTATION; GENE; GENE DOSAGE; GENE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MAKORIN RING FINGER 3 GENE; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEGREGATION ANALYSIS;

CHILD; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FATHERS; FEMALE; GENOMIC IMPRINTING; HUMANS; INHERITANCE PATTERNS; MALE; MUTATION; PEDIGREE; PUBERTY, PRECOCIOUS; RIBONUCLEOPROTEINS;

EID: 84902333304     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3126     Document Type: Article

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