PMC:5992133 / 13565-14822 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5992133","sourcedb":"PMC","sourceid":"5992133","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5992133","text":"Figure 3 Facial Dysmorphism of Individuals with TLK2 Variants\n(A) Photographs of 21 unrelated individuals with a loss-of-function variant in TLK2, showing overlapping facial dysmorphism. Most frequently reported by clinicians were blepharophimosis, telecanthus, prominent nasal bridge, broad nasal tip, thin vermilion upper lip, and upward slanted palpebral fissures. Pointed and tall chin, epicanthal folds, narrow mouth, high palate, microtia, posteriorly rotated ears, long face, ptosis, and asymmetric face were observed in fewer than half of the individuals.\n(B) Photographs of seven unrelated individuals with a missense or C-terminal truncating variant in TLK2. Variant c.2170C\u003eT (p.Arg724∗) is assigned to this subgroup, since a premature stop codon is introduced in the last exon. Facial dysmorphisms overlapped with dysmorphism observed in individuals with loss-of-function variants.\n(C) Computational averaging of 33 facial photographs of 22 subjects with LOF variants in TLK2 (left) compared with 22 gender- and age-matched control subjects (right).\n(D) Computational averaging of 11 facial photographs of 8 subjects with missense or C-terminal truncating variants in TLK2 (left) compared with 8 gender- and age-matched control subjects (right).","tracks":[]}