| KONEČNÁ, Petra, Jana ŠŤASTNÁ, Lenka DOSTALOVÁ KOPEČNÁ, Josef VČELÁK a Dagmar PROCHÁZKOVÁ. A novel MC4 R gene mutations associated with early onset childhood obesity: a case report. In ICIEM 2017, Rio de Janeiro, Brasil, Journal of Inborn Errors of Metabolism and Screening, 2017, vol.5,s.390. 2017. ISSN 2326-4098. Dostupné z: https://dx.doi.org/10.1177/2326409817722292. |
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@proceedings{1392307,
author = {Konečná, Petra and Šťastná, Jana and Dostalová Kopečná, Lenka and Včelák, Josef and Procházková, Dagmar},
booktitle = {ICIEM 2017, Rio de Janeiro, Brasil, Journal of Inborn Errors of Metabolism and Screening, 2017, vol.5,s.390},
doi = {http://dx.doi.org/10.1177/2326409817722292},
keywords = {MC4 R gene children obesity},
language = {eng},
title = {A novel MC4 R gene mutations associated with early onset childhood obesity: a case report},
url = {http://journals.sagepub.com/home/en},
year = {2017}
}
TY - CONF
ID - 1392307
AU - Konečná, Petra - Šťastná, Jana - Dostalová Kopečná, Lenka - Včelák, Josef - Procházková, Dagmar
PY - 2017
TI - A novel MC4 R gene mutations associated with early onset childhood obesity: a case report
KW - MC4 R gene children obesity
UR - http://journals.sagepub.com/home/en
N2 - The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight. MC4 R gene mutations are the most common cause of monogenic obesity.Monogenic obesity is described as rare and severe early-onset obesity with abnormal feeding behavior and endocrine disorders. MC4R-linked obesity is characterized by the variable severity of obesity and almost no notable additional phenotypes. Mutations in the MC4R gene are involved in 2-3% of obese children and adults;the majority of these are heterozygous. Authors describe a case report of a two-year-old boy with early onset severe obesity. A novel mutation -22A/T in 5UTR region was identified in the patient.
ER -
KONEČNÁ, Petra, Jana ŠŤASTNÁ, Lenka DOSTALOVÁ KOPEČNÁ, Josef VČELÁK a Dagmar PROCHÁZKOVÁ. A novel MC4 R gene mutations associated with early onset childhood obesity: a case report. In \textit{ICIEM 2017, Rio de Janeiro, Brasil, Journal of Inborn Errors of Metabolism and Screening, 2017, vol.5,s.390}. 2017. ISSN~2326-4098. Dostupné z: https://dx.doi.org/10.1177/2326409817722292.
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