par Burniat, Agnès ;Pirson, Isabelle ;Vilain, Catheline ;Kulik, Willem;Afink, Gijs;Moreno Reyes, Mario Rodrigo ;Corvilain, Bernard ;Abramowicz, Marc
Référence The Journal of clinical endocrinology and metabolism, 97, 7, page (E1276-E1283)
Publication Publié, 2012-07
Référence The Journal of clinical endocrinology and metabolism, 97, 7, page (E1276-E1283)
Publication Publié, 2012-07
Article révisé par les pairs
Titre: |
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Auteur: | Burniat, Agnès; Pirson, Isabelle; Vilain, Catheline; Kulik, Willem; Afink, Gijs; Moreno Reyes, Mario Rodrigo; Corvilain, Bernard; Abramowicz, Marc |
Informations sur la publication: | The Journal of clinical endocrinology and metabolism, 97, 7, page (E1276-E1283) |
Statut de publication: | Publié, 2012-07 |
Sujet CREF: | Endocrinologie |
MeSH keywords: | Child, Preschool |
Consanguinity | |
DNA Mutational Analysis -- methods | |
Female | |
Genome, Human | |
Goiter -- diagnosis -- genetics | |
Homozygote | |
Humans | |
Hypothyroidism -- diagnosis -- genetics | |
Iodide Peroxidase -- analysis -- genetics | |
Male | |
Pedigree | |
Point Mutation -- physiology | |
Siblings | |
Young Adult | |
Note générale: | Case Reports |
Journal Article | |
Research Support, Non-U.S. Gov't | |
SCOPUS: ar.j | |
Langue: | Anglais |
Identificateurs: | urn:issn:0021-972X |
info:doi/10.1210/jc.2011-3314 | |
info:pii/jc.2011-3314 | |
info:scp/84863572649 | |
info:pmid/22535972 |