| 概要 |
Dursun-Ozgul neurodevelopmental syndrome (DONDS) is a novel autosomal recessive syndrome characterized by developmental and epileptic encephalopathy, autistic features, pyramidal signs, joint laxity, and dysmorphic features. It has been reported that mutations in ELFN1 cause this syndrome. ELFN1 encodes extracellular LRR fibronectin containing-1 protein which functions as protein phosphatase inhibitor and has an important role in synapse formation and differentiation.
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| 著者 |
Dore R, Chang CT, Decleve A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF, Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R |
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| 著者 |
Dursun A, Yalnizoglu D, Yilmaz DY, Oguz KK, Gulbakan B, Kosukcu C, Akar HT, Kahraman AB, Acar NV, Gunbey C, Yildiz Y, Ozgul RK |
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