Copy number analysis of patients with gonadal abnormalities using high density microarrays and MLPA [ 2009 - 2011 ]

Also known as: Genetic analysis of patients with abnormalities of testis and ovary development

Research Grant

[Cite as]

Researchers: Dr Stefan White (Principal investigator)

Brief description Congenital conditions in which development of the gonads or anatomical sex is abnormal are surprisingly common. The underlying cause of these problems is most often the failure of genes responsible for proper development of testes or ovaries. Only a small proportion of patients can be explained by mutations in known gonad determining genes. We will analyse DNA from these patients on very high density microarrays to identify new genes that cause abnormalities in testis and ovary development.

Funding Amount $AUD 311,187.04

Funding Scheme NHMRC Project Grants

Notes New Investigator Grant

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