Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

BACKGROUND: Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. In most patients, frameshift mu...

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Hoofdauteurs: Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2013
Onderwerpen:
Research
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3599008/
https://ncbi.nlm.nih.gov/pubmed/23442826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-36
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