Publications
Export 2 results:
Filters: Author is Beaudet, Arthur L and Keyword is Intellectual Disability [Clear All Filters]
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ;94(5):784-9.
. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
.