Homozygosity for two missense mutations in the leptin receptor gene (P316T;W646C) in a Turkmenian girl with severe early-onset obesity

Journal of Pediatric Endocrinology and Metabolism

Volumn 24, Issue 11-12, 2011, Pages 1043-1045

  Andiran, Nesibe ^a   Çelik, Nurullah ^a   Andiran, Fatih ^a  

^a FATIH UNIVERSITY   (Turkey)

Author keywords

leptin; leptin receptor gene (LEPR); monogenic obesity

Indexed keywords

CYSTEINE; DEXAMETHASONE; LEPTIN RECEPTOR; PROLINE; THREONINE; TYROSINE;

ACANTHOSIS NIGRICANS; AMINO ACID SUBSTITUTION; ARTICLE; BIRTH WEIGHT; BLOOD ANALYSIS; BLOOD CHEMISTRY; BODY MASS; BREAST DEVELOPMENT; CASE REPORT; CHILD; CHILDHOOD DISEASE; CLINICAL ASSESSMENT; CLINICAL EXAMINATION; CONGENITAL LEPTIN DEFICIENCY; CONSANGUINEOUS MARRIAGE; DEXAMETHASONE SUPPRESSION TEST; DISEASE SEVERITY; DRUG EFFICACY; FEMALE; FLOW CYTOMETRY; GENETIC ANALYSIS; HEMACYTOMETRY; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HORMONE DEFICIENCY; HUMAN; HYPERPHAGIA; MISSENSE MUTATION; OBESITY; PHYSICAL EXAMINATION; PREGNANCY; PRESCHOOL CHILD; PROTEIN DEPLETION; PROTEIN FUNCTION; RISK FACTOR; THYROID FUNCTION TEST; TURKMENISTAN; WEIGHT GAIN;

ACANTHOSIS NIGRICANS; AGE OF ONSET; CHILD; CONSANGUINITY; FEMALE; HOMOZYGOTE; HUMANS; MUTATION, MISSENSE; OBESITY; RECEPTORS, LEPTIN; SEVERITY OF ILLNESS INDEX; TURKEY;

EID: 83655190869     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/JPEM.2011.313     Document Type: Article

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