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We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas. Click to show full abstract
We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas.
Keywords:
samd12 ext1;
multiple osteochondromas;
ext1 fusion;
detects samd12;
seq detects;
rna seq
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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recommendations!