Pendred syndrome

Disease ID:740
Name:Pendred syndrome
Associated with:1 target
Database Links
Orphanet: ORPHA705

Targets

Kir4.1
References:  1-2

Ligands

No ligand related data available for Pendred syndrome

References

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1. Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP. (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl. Acad. Sci. U.S.A., 106 (14): 5842-7. [PMID:19289823]

2. Yang T, Gurrola 2nd JG, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ. (2009) Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am. J. Hum. Genet., 84 (5): 651-7. [PMID:19426954]