| 概要 |
Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) is an autosomal dominant disorder characterized by a cascade of intellectual, motor, and social disabilities, presenting with head growth arrest, stereotyped hand movements, loss of language skills, and epilepsy. Mutations in the GABBR2 gene lead to this disease. GABBR2-mediated gamma-aminobutyric acid signaling has been reported to be a critical factor in determining the severity and nature of neurodevelopmental phenotypes.
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| 著者 |
Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilguvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M |
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| 著者 |
Vuillaume ML, Jeanne M, Xue L, Blesson S, Denomme-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bezieau S, Rondard P, Laumonnier F, Toutain A |
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