| 概要 |
Teebi hypertelorism syndrome (TBHS) is a rare craniofacial disorder characterized by hypertelorism, prominent forehead, short nose with broad or depressed nasal root. Some cases of TBHS have been attributed to SPECC1L mutations. SPECC1L encodes a novel cross-linking protein that interacts between the microtubules and actin cytoskeleton systems as well as plays a role in cell migration and adhesion. Recently, TBHS due to mutations in CDH11 has been reported. It has been demonstrated that CHD11 is involved in focal adhesion and actin cytoskeleton organization.
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| 著者 |
Zhang T, Wu Q, Zhu L, Wu D, Yang R, Qi M, Huang X |
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| 著者 |
Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sanchez-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 |
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