|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2011-1-19
|
|
pubmed:abstractText |
Monocarboxylate transporter 8 (MCT8 or SLC16A2) mutations cause X-linked Allan-Herndon-Dudley syndrome. Heterozygous females are usually asymptomatic, but pregnancy may modify thyroid function and MCT8 is expressed in the placenta, suggesting that maternal and fetal abnormalities might develop even in the absence of MCT8 fetal mutation. Genetic counseling is so far based on X-linked transmission, and prenatal diagnosis is rarely performed.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Feb
|
|
pubmed:issn |
1479-683X
|
|
pubmed:author |
pubmed-author:AmielJeanneJ,
pubmed-author:BonnefontJean PaulJP,
pubmed-author:CarréAuroreA,
pubmed-author:CastanetMireilleM,
pubmed-author:De SarcusBenoitB,
pubmed-author:DesguerreIsabelleI,
pubmed-author:FlochCorinneC,
pubmed-author:MandelbrotLaurentL,
pubmed-author:MorandiniMelinaM,
pubmed-author:NeriNathalieN,
pubmed-author:PolakMichelM,
pubmed-author:RamosHelton EstrelaHE,
pubmed-author:SimonAlbaneA,
pubmed-author:TronElodieE,
pubmed-author:ValayannopoulosVassiliV
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
164
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
309-14
|
|
pubmed:meshHeading |
pubmed-meshheading:21098685-Adult,
pubmed-meshheading:21098685-Female,
pubmed-meshheading:21098685-Genetic Predisposition to Disease,
pubmed-meshheading:21098685-Humans,
pubmed-meshheading:21098685-Hypothyroidism,
pubmed-meshheading:21098685-Infant, Newborn,
pubmed-meshheading:21098685-Male,
pubmed-meshheading:21098685-Monocarboxylic Acid Transporters,
pubmed-meshheading:21098685-Pregnancy,
pubmed-meshheading:21098685-Prenatal Diagnosis,
pubmed-meshheading:21098685-Risk,
pubmed-meshheading:21098685-Thyroid Function Tests
|
|
pubmed:year |
2011
|
|
pubmed:articleTitle |
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.
|
|
pubmed:affiliation |
INSERM U845 Pediatric Endocrinology and Gynecology, Centre des Maladies Endocriniennes Rares de la Croissance, AP-HP, Necker-Enfants Malades Hospital, Université Paris Descartes, 75743 Paris, France.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
