T G W Letteboer
Affiliation: University Medical Center
Country: The Netherlands
- Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patientsT G W Letteboer
DBG Department of Medical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB, Utrecht, The Netherlands
Hum Genet 116:8-16. 2005..In 7% of the families no ENG or ALK1 mutation was found. The mutations detected were deletions, insertions, nonsense, missense and splice site mutations. The majority were novel mutations...
- Severe complications in a child with achondroplasia and two FGFR3 mutations on the same alleleP Rump
Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
Am J Med Genet A 140:284-90. 2006..Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele...
- SMAD4 mutations found in unselected HHT patientsC J Gallione
Duke University Medical Center, Durham, NC 27710, USA
J Med Genet 43:793-7. 2006..Mutations in SMAD4, another TGF-beta pathway member, are seen in patients with the combined syndrome of juvenile polyposis (JP) and HHT (JP-HHT)...
- Genotype-phenotype relationship in hereditary haemorrhagic telangiectasiaT G W Letteboer
J Med Genet 43:371-7. 2006..HHT1 has a distinct, more severe phenotype than HHT2. There is a difference in the presence of symptoms between men and women. With these data, genetic counselling can be given more accurately when the family mutation is known...