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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Bibliografske podrobnosti
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2013
Teme:
Research
Online dostop: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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