Human pathology

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NKX5-3

Pathology

- germline mutations of NKX5-3 in oculo-auricular syndrome (18423520).

References

- Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL. Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome. Am J Hum Genet. 2008 Apr 16; PMID: 18423520