A novel MKRN3 missense mutation causing familial precocious puberty

Human Reproduction

Volumn 29, Issue 12, 2014, Pages 2838-2843

  De Vries, L ^a,b   Gat Yablonski, G ^a,b   Dror, N ^b,c   Singer, A ^d   Phillip, M ^a,b  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c MEIR MEDICAL CENTER   (Israel)

^d BARZILAI MEDICAL CENTER   (Israel)

Author keywords

central precocious puberty; makorin RING finger protein 3; maternal imprinting; zinc finger

Indexed keywords

ESTRADIOL; GLUTAMINE; HISTIDINE; LUTEINIZING HORMONE; MAKORIN RING FINGER PROTEIN 3; PROTEIN; RNA BINDING PROTEIN; TESTOSTERONE; TRIPTORELIN; UNCLASSIFIED DRUG; MKRN3 PROTEIN, HUMAN; RIBONUCLEOPROTEIN;

ARTICLE; BONE AGE; BREAST DEVELOPMENT; CASE REPORT; CHILD; COMPUTER MODEL; ESTRADIOL BLOOD LEVEL; FEMALE; GENETIC ANALYSIS; GENOME IMPRINTING; GROWTH ACCELERATION; GROWTH RATE; HUMAN; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MENARCHE; MENSTRUATION; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PROVOCATION TEST; RNA BINDING; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TESTICULAR ENLARGEMENT; TESTOSTERONE BLOOD LEVEL; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; PEDIGREE; PROTEIN TERTIARY STRUCTURE; SIBLING;

FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PUBERTY, PRECOCIOUS; RIBONUCLEOPROTEINS; SIBLINGS;

EID: 84929343945     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/deu256     Document Type: Article

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