Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. Issue 9 (5th September 2003)
- Record Type:
- Journal Article
- Title:
- Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. Issue 9 (5th September 2003)
- Main Title:
- Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
- Authors:
- Sarkozy, A
Conti, E
Seripa, D
Digilio, M C
Grifone, N
Tandoi, C
Fazio, V M
Di Ciommo, V
Marino, B
Pizzuti, A
Dallapiccola, B - Abstract:
- Is Part Of:
- Journal of medical genetics. Volume 40:Issue 9(2003)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 40:Issue 9(2003)
- Issue Display:
- Volume 40, Issue 9 (2003)
- Year:
- 2003
- Volume:
- 40
- Issue:
- 9
- Issue Sort Value:
- 2003-0040-0009-0000
- Page Start:
- 704
- Page End:
- 708
- Publication Date:
- 2003-09-05
- Subjects:
- congenital heart defects -- Noonan syndrome -- LEOPARD syndrome -- PTPN11
CFCS, cardio-facio-cutaneous syndrome -- LEOPARD, multiple lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth and sensorineural deafness -- ML/LS, multiple lentigines/LEOPARD syndrome -- SSCP, single strand conformation polymorphism
Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.40.9.704 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 18342.xml