MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9

Clin Dysmorphol. 2023 Jul 1;32(3):133-138. doi: 10.1097/MCD.0000000000000460. Epub 2023 May 1.

Authors

Tayfun Cinleti¹, Ali Gülen², Beria Sönmez¹, Semra Gürsoy¹, Özge Kangalli Boyacioğlu³, Suna Asilsoy³, Ayfer Ulgenalp², Özlem Giray Bozkaya¹, Ahmet Okay Çağlayan^{2

4}

Affiliations

¹ Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics.
² Department of Medical Genetics, School of Medicine.
³ Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Allergy and Immunology.
⁴ Department of Molecular Medicine, Institute of Health Sciences, Dokuz Eylul University, Izmir, Turkey.

PMID: 37195360
DOI: 10.1097/MCD.0000000000000460

No abstract available

Publication types

Case Reports

MeSH terms

Child
Female
Humans
Intracellular Signaling Peptides and Proteins*
Syndrome

Substances

SAMD9 protein, human
Intracellular Signaling Peptides and Proteins