Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound hetero...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Syndromol
Auteurs principaux: van der Ven, Amelie T., Shril, Shirlee, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Laricchia, Kristen M., Lek, Monkol, Tasic, Velibor, Hildebrandt, Friedhelm
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2017
Sujets:
Novel Insights from Clinical Practice
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5582506/
https://ncbi.nlm.nih.gov/pubmed/28878612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000477750
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