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PedAM

Pediatric Disease Annotations & Medicines




Disease goiter
Phenotype C0018784|sensorineural hearing loss
Sentences 2
PubMedID- 22429511 Objective: recessive mutations of the slc26a4 (pds) gene on chromosome 7q31 can cause sensorineural hearing loss with goiter (pendred syndrome) or non-syndromic autosomal recessive hearing loss (dfnb4).
PubMedID- 21689387 Mutations of the slc26a4 (pds) gene can cause sensorineural hearing loss with goiter (pds) or non-syndromic recessive deafness with enlarged vestibular aqueduct [5,6].

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