Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene

Clin Genet. 2021 May;99(5):740-741. doi: 10.1111/cge.13914. Epub 2021 Jan 11.

Authors

Irene Baquedano-Lobera¹, Yolanda Romero-Salas², Ignacio Ros-Arnal³, María Dolores Miramar-Gallart⁴, Javier López-Pisón⁵, Carolina Corona-Bellostas⁶, Ruth García-Romero³

Affiliations

¹ Pediatrics Department, Pediatric Hospital Miguel-Servet, Zaragoza, Spain.
² Pediatric Nephrology, Hospital Miguel-Servet, Zaragoza, Spain.
³ Pediatric Gastroenterology, Hospital Miguel-Servet, Zaragoza, Spain.
⁴ Pathobiochemistry, Genetics Section, Hospital Miguel-Servet, Zaragoza, Spain.
⁵ Neuropediatrics, Hospital Miguel-Servet, Zaragoza, Spain.
⁶ Pediatric Surgery, Hospital Miguel-Servet, Zaragoza, Spain.

PMID: 33427306
DOI: 10.1111/cge.13914

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Child
Esophageal Achalasia / diagnostic imaging
Esophageal Achalasia / genetics*
Esophageal Achalasia / physiopathology
Female
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Syndrome

Substances

Intracellular Signaling Peptides and Proteins
SAMD9 protein, human