Expansion of phenotype and genotypic data in CRB2-related syndrome

Sequence variants in CRB2 cause a syndrome with greatly elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly and renal findings similar to Finnish congenital nephrosis. All reported patients have been homozygotes or compound heterozygotes f...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027675/
https://ncbi.nlm.nih.gov/pubmed/27004616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.24
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