[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. / Monivammaisuuden taustalla Allan-Herndon-Dudleyn oireyhtymä.
Duodecim
; 130(21): 2202-5, 2014.
Article
em Fi
| MEDLINE
| ID: mdl-25582014
ABSTRACT
Normal function of the thyroid gland is the cornerstone of a child's mental development and physical growth. We describe a Finnish family, in which the diagnosis of three brothers became clear after investigations that lasted for more than 30 years. Two of the sons have already died. DNA analysis of the third one, a 16-year-old boy, revealed in exome sequencing of the complete X chromosome a mutation in the SLC16A2 gene, i.e. MCT8, coding for a thyroid hormone transport protein. Allan-Herndon-Dudley syndrome was thus shown to be the cause of multiple disabilities.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular
/
Transportadores de Ácidos Monocarboxílicos
/
Deficiência Intelectual Ligada ao Cromossomo X
/
Hipotonia Muscular
Limite:
Adolescent
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
Fi
Revista:
Duodecim
Ano de publicação:
2014
Tipo de documento:
Article