4.4 Article

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

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

F. Brioude et al.

JOURNAL OF MEDICAL GENETICS (2013)

Article Genetics & Heredity

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction

Fadel Alyaqoub et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Genetics & Heredity

12q14 Microdeletion Syndrome and Short Stature With or Without Relative Macrocephaly

Toshiki Takenouchi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Endocrinology & Metabolism

Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes

Darya Gorbenko Del Blanco et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2011)

Article Biochemistry & Molecular Biology

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Sally Ann Lynch et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

Epigenoty-pephenotype correlations in Silver-Russell syndrome

E. L. Wakeling et al.

JOURNAL OF MEDICAL GENETICS (2010)

Review Genetics & Heredity

The genetic aetiology of Silver-Russell syndrome

S. Abu-Amero et al.

JOURNAL OF MEDICAL GENETICS (2008)