Article
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Human genetics - 1 Jul 2021
Li Dong, March Michael E, Fortugno Paola, Cox Liza L, Matsuoka Leticia S, Monetta Rosanna, Seiler Christoph, Pyle Louise C, Bedoukian Emma C, Sánchez-Soler María José, Caluseriu Oana, Grand Katheryn, Tam Allison, Aycinena Alicia R P, Camerota Letizia, Guo Yiran, Sleiman Patrick, Callewaert Bert, Kumps Candy, Dheedene Annelies, Buckley Michael, Kirk Edwin P, Turner Anne, Kamien Benjamin, Patel Chirag, Wilson Meredith, Roscioli Tony, Christodoulou John, Cox Timothy C, Zackai Elaine H, Brancati Francesco, Hakonarson Hakon, Bhoj Elizabeth J
Abstract excerpt
Teebi hypertelorism syndrome (THS; OMIM 145420) is a rare craniofacial disorder characterized by hypertelorism, prominent forehead, short nose with broad or depressed nasal root. Some cases of THS have been attributed to SPECC1L variants. Homozygous variants in CDH11 truncating the transmembrane and intracellular domains have been implicated in Elsahy-Waters syndrome (EWS; OMIM 211380) with hypertelorism. We...
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