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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Syndromol
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2017
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados