Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ.
Li D, et al.
Hum Genet. 2021 Jul;140(7):1061-1076. doi: 10.1007/s00439-021-02274-3. Epub 2021 Apr 3.
Hum Genet. 2021.
PMID: 33811546
Free PMC article.
We report THS due to CDH11 heterozygous missense variants on 19 subjects from 9 families. ...These features distinguished this phenotype from that seen in SPECC1L-related hypertelorism syndrome and CDH11-related EWS. Our results demonstrate heterozygous variants in …
We report THS due to CDH11 heterozygous missense variants on 19 subjects from 9 families. ...These features distinguished this phenot …