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Deafness, digenic, GJB2/GJB6

MedGen UID:: 382182
•Concept ID:: C2673760
•: Disease or Syndrome

Synonym:	Deafness, Digenic, Gjb2-Gjb6

OMIM®:	121011; 220290; 604418

Recent clinical studies

Etiology

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.

Cama E, Melchionda S, Palladino T, Carella M, Santarelli R, Genovese E, Benettazzo F, Zelante L, Arslan E
Int J Audiol 2009 Jan;48(1):12-7. doi: 10.1080/14992020802400654. PMID: 19173109

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ClinVar
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GTR
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GTR(Clinical)
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Deafness, digenic, GJB2/GJB6
Deafness, digenic, GJB2/GJB6

MedGen
C2673760[conceptid] (1)
MedGen
C2673761[trait identifier] AND "OMIM"[submitter] (3)
ClinVar
Deafness, digenic, GJB2/GJB3
Deafness, digenic, GJB2/GJB3

MedGen
C2673761[conceptid] (1)
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