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
;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
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 |
