Cutis laxa recessive type 1 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 12 individuals
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| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Cutis laxa | integumentary | 100 % | 22829427 | 2014-04-24 | |
| Emphysema | respiratory | 92 % | 22829427 | 2014-04-24 | |
| Peripheral pulmonary artery stenosis | circulatory | 50 % | 22829427 | 2014-04-24 | |
| Hernia | digestive | 42 % | 22829427 | 2014-04-24 | |
| Diaphragmatic hernia | digestive | 42 % | 22829427 | 2014-04-24 | |
| Hypotonia | nervous | 42 % | 22829427 | 2014-04-24 | |
| Prominent ears | integumentary | 42 % | 22829427 | 2014-04-24 | |
| Inguinal hernia | digestive | 25 % | 22829427 | 2014-04-24 | |
| Tricuspid valvular insufficiency | circulatory | 25 % | 22829427 | 2014-04-24 | |
| Aortic valvular insufficiency | circulatory | 25 % | 22829427 | 2014-04-24 | |
| Bossed forehead | skeletal | 25 % | 22829427 | 2014-04-24 | |
| Broad nasal bridge | skeletal | 25 % | 22829427 | 2014-04-24 | |
| Prominent veins | integumentary | 25 % | 22829427 | 2014-04-24 |
List of references:
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Bert Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, Meghan Mac Neal, Elaine C Davis, Joseph G H Lee, Aicha Salhi, Sheila Unger, Ketil Heimdal, Salome De Almeida, Uwe Kornak, Harald Gaspar, Jean-Luc Bresson, Katrina Prescott, Maria E Gosendi, Sahar Mansour, Gérald E Piérard, Suneeta Madan-Khetarpal, Frank C Sciurba, Sofie Symoens, Paul J Coucke, Lionel Van Maldergem, Zsolt Urban, Anne De Paepe,
Human mutation - Jan 2013