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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2013
Gaiak:
Research
Sarrera elektronikoa: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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