Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients-Reference-Cited by-同舟云学术

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients

Published:2014-01-29 Issue:5 Volume:164 Page:1245-1253
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Greally Marie T.¹²,Kalis Neale N.²,Agab Wahid²,Ardati Kasim³,Giurgea Sanda⁴,Kornak Uwe⁵,Van Maldergem Lionel⁶

Affiliation:

1. National Centre for Medical Genetics; Our Lady's Children's Hospital, Crumlin; Dublin Ireland

2. Bahrain Defence Forces Hospital; Department of Paediatric Cardiology; Riffa Kingdom of Bahrain

3. Bahrain Specialist Hospital; Juffair Kingdom of Bahrain

4. Department of Neurology; CHU Tivoli; La Louvière Belgium

5. Institute of Medical and Human Genetics; Charité-Universitaetsmedizin Berlin; Berlin Germany

6. Centre of Human Genetics; Université de Franche-Comté; Besançon France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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3. Delta1-pyrroline-5-carboxylate synthase deficiency: Neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline;Baumgartner;Eur J Pediatr,2005

4. A missense mutation in ALDH18A1, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome;Bicknell;Eur J Hum Genet,2008

5. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene;Colige;Am J Hum Genet,1999

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