Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of...

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Detalhes bibliográficos
Principais autores: Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, Mulliken, John B., Tranebjærg, Lisbeth, Brooks, David G., Cox, Gerald F., Cruysberg, Johan R., Curtis, Mary A., Davenport, Sandra L. H., Friedrich, Christopher A., Kaitila, Ilkka, Krawczynski, Maciej Robert, Latos-Bielenska, Anna, Mukai, Shitzuo, Olsen, Björn R., Shinno, Nancy, Somer, Mirja, Vikkula, Miikka, Zlotogora, Joel, Prockop, Darwin J., Ala-Kokko, Leena
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 1999
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288268/
https://ncbi.nlm.nih.gov/pubmed/10486316
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