F H Sharkey
- 17q21.31 microdeletion syndrome: further expanding the clinical phenotypeF H Sharkey
Western General Hospital, Edinburgh, UK
Cytogenet Genome Res 127:61-6. 2009..31, and includes CRHR1 and MAPT, putative candidate genes for the 17q21.31 phenotype. The 17q21.31 microdeletion phenotype is perhaps more variable than previously described despite haploinsufficiency for the same genes in many cases...
- Chromosome analysis: what and when to requestF H Sharkey
MRC Human Genetics Unit, Edinburgh, UK
Arch Dis Child 90:1264-9. 2005..This review suggests a simple algorithm for the targeted use of diagnostic cytogenetic tools in specific patient groups commonly seen in paediatric practice...