D R Mowat
Affiliation: University of New South Wales
- Duplication within chromosome 5q characterized by fluorescence in situ hybridizationD Mowat
Department of Clinical Genetics, Sydney Children s Hospital, NSW, Australia
Am J Med Genet 83:361-4. 1999..The boy we describe here is the first case of a pure partial duplication of 5q to be proven by FISH techniques. A review of previously reported cases of putative partial 5q duplication showed no consistent phenotype...
- Ethical, legal and social issues surrounding the human genome projectD Mowat
The Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia
Intern Med J 32:89-90. 2002
- Mowat-Wilson syndromeD R Mowat
Department of Medical Genetics, The Sydney Children s Hospital, University of New South Wales, Sydney, NSW 2031, Australia
J Med Genet 40:305-10. 2003..The syndrome is the result of heterozygous deletions or truncating mutations of the ZFHX1B (SIP1) gene on chromosome 2q22...
- Kousseff syndrome: a causally heterogeneous disorderK Maclean
Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia
Am J Med Genet A 124:307-12. 2004..Sequencing of the entire coding region of CITED2 did not reveal a mutation. The second case, a male infant, was found to have a 22q11.2-microdeletion. These cases confirm Kousseff syndrome to be a causally heterogeneous disorder...