<i>CDKN1C</i> mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome - Concepedia

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<i>CDKN1C</i> mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

126

Citations

31

References

2013

Year

Frédéric Brioude, Isabelle Oliver‐Petit, A. Blaise, Françoise Praz, Sylvie Rossignol, Maryline Le Jule, Nathalie Thibaud, A‐M Faussat, M. Tauber, Yves Le Bouc,

Journal of Medical Genetics

Abstract

CDKN1C mutations cause dominant maternally transmitted RSS, completing the molecular mirror with BWS. CDKN1C should be investigated in cases with family history of RSS.

References

	Year	Citations

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