Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. Issue 12 (18th December 2003)
- Record Type:
- Journal Article
- Title:
- Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. Issue 12 (18th December 2003)
- Main Title:
- Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
- Authors:
- Dianzani, I
Garelli, E
Gustavsson, P
Carando, A
Gustafsson, B
Dahl, N
Annerén, G - Abstract:
- Is Part Of:
- Journal of medical genetics. Volume 40:Issue 12(2003)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 40:Issue 12(2003)
- Issue Display:
- Volume 40, Issue 12 (2003)
- Year:
- 2003
- Volume:
- 40
- Issue:
- 12
- Issue Sort Value:
- 2003-0040-0012-0000
- Page Start:
- e133
- Page End:
- e133
- Publication Date:
- 2003-12-18
- Subjects:
- AEC syndrome -- Rapp–Hodgkin syndrome -- TP63 -- dysmorphology
TA, transactivation -- TID, transactivation inhibitory domain -- DB, DNA binding -- RHS, Rapp–Hodgkin syndrome -- EEC, ectodermal dysplasia, ectrodactyly, cleft lip / palate -- SHFM, split-hand / foot malformation -- ADULT, acro-dermato-ungual-lacrimal-tooth -- AEC, ankyloblepharon-ectodermal dysplasia-cleft -- LMS, limb-mammary syndrome -- SAM, sterile alpha motif
Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.40.12.e133 ↗
- 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:
- 18845.xml