Výsledky vyhledávání - "Sumanth Punuru"

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Autor: Andreas R. Janecke, Lukas A. Huber, Roberto Adachi, Valeria Strauß, Anuradha Ganesh, Siham Al Sinani, Martha P. Schatz, Roger Janz, Badr AlSaleem, Martin Walter Laass, Majid Alfadhel, Sumanth Punuru, Elizabeth Sanchez, Xiaoqin Liu, Naveen Mittal, Fowzan S. Alkuraya, Ujwala S. Saboo, Rüdiger Adam, Sana Al Zuhaibi, Klaus Rohrschneider, Fathiya Al Murshedi, Thomas Müller, Ruth Heidelberger, Johanna C. Escher, Arne Viestenz

Publikováno v: Human Genetics, 140(8), 1143-1156. Springer-Verlag
Human Genetics

Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report

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