CTU2

Publications

Shaheen R et al. The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM‐PL): Report of two additional patients. Am J Med Genet A. 2016;70(12): 3222-3226. PMID: 27480277.

Shaheen R et al. Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. Genet Med. 2016;18(7): 686-695. PMID: 26633546.

Shaheen R et al. Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34. Hum mut. 2019;40(11): 2108-2120. PMID: 31301155.