[Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies].

Banghová, K

[Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies]. [electronic resource] - Casopis lekaru ceskych 2008 - 616-22 p. digital

Publication Type: Case Reports; Journal Article

0008-7335


Adolescent
Adult
Child
Child, Preschool
Congenital Hypothyroidism--diagnosis
Female
Goiter--genetics
Hearing Loss, Sensorineural--genetics
Humans
Infant
Male
Membrane Transport Proteins--genetics
Mutation
Pedigree
Phenotype
Sequence Analysis, DNA
Sulfate Transporters
Syndrome
Young Adult