Abstract
The general aim of the research presented in this thesis was to identify genetic and/or molecular defect in several cohorts of patients with various growth disorders (CPHD, IGHD and GHIS).
Chapter 1 gives an introduction in the topics described in this thesis.
Chapter 2 describes the mutation screening and copy number analysis of HMGA2 and CDK6 in Dutch IGHD patients.
Chapter 3 presents the results of mutations screening of the Hedgehog genes SHH and HHIP in patients with CPHD.
Chapter 4 describes a new OTX2 mutation in a patient with the combination of CPHD, pituitary malformation and optic nerve hypoplasia.
Chapter 5 presents a heterozygous GHR mutation, subject to nonsense mediated decay in a patient with Growth Hormone Insensitivity Syndrome.
Chapter 6 discusses our findings and presents the final conclusions of this thesis.
Chapter 7 summarizes our findings
Chapter 1 gives an introduction in the topics described in this thesis.
Chapter 2 describes the mutation screening and copy number analysis of HMGA2 and CDK6 in Dutch IGHD patients.
Chapter 3 presents the results of mutations screening of the Hedgehog genes SHH and HHIP in patients with CPHD.
Chapter 4 describes a new OTX2 mutation in a patient with the combination of CPHD, pituitary malformation and optic nerve hypoplasia.
Chapter 5 presents a heterozygous GHR mutation, subject to nonsense mediated decay in a patient with Growth Hormone Insensitivity Syndrome.
Chapter 6 discusses our findings and presents the final conclusions of this thesis.
Chapter 7 summarizes our findings
| Original language | English |
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| Award date | 13 Dec 2011 |
| Place of Publication | Rotterdam |
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| Publication status | Published - 13 Dec 2011 |
Research programs
- EMC MM-01-54-01
