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1.
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.
J Clin Endocrinol Metab
; 87(1): 336-9, 2002 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-11788671
2.
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
J Clin Endocrinol Metab
; 89(8): 4136-41, 2004 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-15292359
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