A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia

Eitemau Tebyg

• Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
  gan: Paznekas, William A., et al.
  Cyhoeddwyd: (2003)
• Two novel GJA1 variants in oculodentodigital dysplasia
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  Cyhoeddwyd: (2019)
• Novel Mutations in GJA1 Cause Oculodentodigital Syndrome
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  Cyhoeddwyd: (2008)
• Arrhythmias in dilated cardiomyopathy.
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  Cyhoeddwyd: (1986)
• Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia
  gan: Boyden, Lynn M., et al.
  Cyhoeddwyd: (2014)