De novo and inherited TCF20 pathogenic variants are...

Genome Medicine 2019 / 12 Vol. 11; Iss. 1

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T
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Volume:
11
Language:
english
Journal:
Genome Medicine
DOI:
10.1186/s13073-019-0623-0
Date:
December, 2019
File:
PDF, 1.53 MB
english, 2019
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