Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 4, 2014, Pages

  Settas, Nikolaos ^a   Dacou Voutetakis, Catherine ^a   Karantza, Maria ^a   Kanaka Gantenbein, Christina ^a   Chrousos, George P ^a   Voutetakis, Antonis ^a  

^a UNIVERSITY OF ATHENS   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CHILD; COMPUTER ANALYSIS; COMPUTER MODEL; FEMALE; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INHERITANCE; MALE; MISSENSE MUTATION; MKRN3 GENE; MUTATOR GENE; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; PROTEIN MOTIF; PUBERTY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, SECONDARY; PUBERTY, PRECOCIOUS; RIBONUCLEOPROTEINS; SIBLINGS;

EID: 84898469573     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-4084     Document Type: Article

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