A novel <i><scp>GATA</scp>6</i> mutation in a child with congenital heart malformation and neonatal diabetes

Serge Eifes, Kishan Chudasama, Janne Molnes, Kerstin Wagner, Tuyen Hoang, Ulrike Schierloh, D Rocour-Brumioul, Stefan Johansson, Pål R. Njølstad, Carine de Beaufort

Clinical Case Reports · 2013 · 12 citations · 20 references

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Abstract

KEY CLINICAL MESSAGE: Diabetes in neonates is a monogenetic disease and genetic analysis is warranted to allow best treatment, prognosis, and genetic counseling. Transcription factor mutations may have a variable expression and different organs may be involved.

References

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