Mutations in the BAF-complex subunit DPF2 associated with Coffin-Siris syndrome
Variants affecting the function of different subunits of the BAF chromatin remodelling complex lead to various neurodevelopmental syndromes including Coffin-Siris syndrome. Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been ass...
Príomhchruthaitheoirí: | Vasileiou, G, Vergarajauregui, S, Endele, S, Popp, B, Büttner, C, Ekici, AB, Gerard, M, Bramswig, NC, Albrecht, B, Clayton-Smith, J, Morton, J, Tomkins, S, Low, K, Weber, A, Wenzel, M, Altmüller, J, Li, Y, Wollnik, B, Hoganson, G, Plona, MR, Cho, MT, Thiel, CT, Lüdecke, HJ, Strom, TM, Calpena, E, Wilkie, AOM, Wieczorek, D, Engel, FB, Reis, A |
---|---|
Formáid: | Journal article |
Foilsithe / Cruthaithe: |
Cell Press
2018
|
Míreanna comhchosúla
Míreanna comhchosúla
-
Coffin-Siris syndrome and cancer susceptibility
de réir: Nicholas A. Borja, et al.
Foilsithe / Cruthaithe: (2023-01-01) -
Nail dysplasia and digital hypoplasia ‒ Coffin-Siris syndrome
de réir: Alba Navarro-Bielsa, et al.
Foilsithe / Cruthaithe: (2024-09-01) -
Anesthetic management in a child with Coffin Siris syndrome
de réir: Badal Parikh, et al.
Foilsithe / Cruthaithe: (2023-01-01) -
Coffin–Siris syndrome: Clinical description of two cases
de réir: Nina Hollander, et al.
Foilsithe / Cruthaithe: (2022-12-01) -
Occurrence of sotos syndrome and coffin-siris syndrome in a family
de réir: Hui-An Chen, et al.
Foilsithe / Cruthaithe: (2023-03-01)