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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599008/
https://www.ncbi.nlm.nih.gov/pubmed/23442826
http://dx.doi.org/10.1186/1750-1172-8-36

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599008/
https://www.ncbi.nlm.nih.gov/pubmed/23442826
http://dx.doi.org/10.1186/1750-1172-8-36

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