Angelman syndrome and thyroid dysfunction.
Genet Couns
; 23(3): 353-7, 2012.
Article
em En
| MEDLINE
| ID: mdl-23072182
Angelman syndrome (AS) is a neurogenetic syndrome, has a prevalence of 1:10,000 to 1:40,000. Patients with AS have genetic alterations in maternal imprinting gene UB3A (15q11-q13) and molecular evaluations confirm the diagnosis. Our aim is to report a new case with AS and subclinical hypothyroidism (SCH) without goiter. Thyroid dysfunction has not been described as part of alterations in AS; the exact pathogenic mechanisms of SCH in patients with AS remains incompletely unknown.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças da Glândula Tireoide
/
Síndrome de Angelman
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
2012
Tipo de documento:
Article