A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin ( POMC ) gene in an Indian boy

Journal of Pediatric Endocrinology and Metabolism

Volumn 25, Issue 1-2, 2012, Pages 175-179

  Hung, Ching Ngar ^a   Poon, Wing Tat ^a   Lee, Ching Yin ^b   Law, Chun Yiu ^a   Chan, Albert Yan Wo ^a  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b Caritas Medical Centre Hong Kong   (Hong Kong)

Author keywords

Adrenocorticotrophic hormone; Obesity; POMC

Indexed keywords

ARGININE; CORTICOTROPIN; HYDROCORTISONE; PROOPIOMELANOCORTIN; THYROTROPIN; THYROXINE;

ADRENAL INSUFFICIENCY; ARTICLE; BODY WEIGHT; CASE REPORT; CHILD; CONVULSION; DEVELOPMENTAL DISORDER; DISORDERS OF STEROID METABOLISM; FOOD INTAKE; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOTE; HUMAN; HYPERPHAGIA; HYPOCORTISOLISM; HYPONATREMIA; HYPOTENSION; HYPOTHYROIDISM; MALE; MUSCLE HYPOTONIA; OBESITY; PHENOTYPE; PHYSIOTHERAPY; PRESCHOOL CHILD; RESPIRATORY DISTRESS; SKIN PIGMENTATION; THYROID FUNCTION;

ADRENOCORTICOTROPIC HORMONE; BIRTH WEIGHT; CHILD, PRESCHOOL; HUMANS; HYPOTHYROIDISM; MALE; MUTATION; OBESITY; PIGMENTATION DISORDERS; PRO-OPIOMELANOCORTIN; SKIN PIGMENTATION;

EID: 84863282535     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/JPEM-2011-0437     Document Type: Article

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