Associated Papers
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Suntharalingham JP et al.
Frontiers in Endocrinology, 2022
Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.
Nagamachi A et al.
The Journal of Clinical Investigation, 2021
Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant.
Tanase-Nakao K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021
MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene.
Onuma S et al.
Human Genome Variation, 2020
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