ロード中...

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...

詳細記述

保存先:
書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 1999
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288268/
https://ncbi.nlm.nih.gov/pubmed/10486316
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!