Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

F Mattioli; E Schaefer; A Magee; P Mark; Grazia Verheijen - Mancini; K Dieterich; G Von Allmen; M Alders; C Coutton; Marjon van Slegtenhorst; G Vieville; M Engelen; JM Cobben; J Juusola; A Pujol; JL Mandel; A Piton

doi:10.1016/j.ajhg.2016.11.010

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

F Mattioli, E Schaefer, A Magee, P Mark, Grazia Verheijen - Mancini, K Dieterich, G Von Allmen, M Alders, C Coutton, Marjon van Slegtenhorst, G Vieville, M Engelen, JM Cobben, J Juusola, A Pujol, JL Mandel, A Piton

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

48 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	105-116
Number of pages	12
Journal	American Journal of Human Genetics
Volume	100
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2016.11.010
Publication status	Published - 2017

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EMC OR-01

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10.1016/j.ajhg.2016.11.010

http://hdl.handle.net/1765/95205

Cite this

Mattioli, F., Schaefer, E., Magee, A., Mark, P., Verheijen - Mancini, G., Dieterich, K., Von Allmen, G., Alders, M., Coutton, C., van Slegtenhorst, M., Vieville, G., Engelen, M., Cobben, JM., Juusola, J., Pujol, A., Mandel, JL., & Piton, A. (2017). Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. American Journal of Human Genetics, 100(1), 105-116. https://doi.org/10.1016/j.ajhg.2016.11.010

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author = "F Mattioli and E Schaefer and A Magee and P Mark and {Verheijen - Mancini}, Grazia and K Dieterich and {Von Allmen}, G and M Alders and C Coutton and {van Slegtenhorst}, Marjon and G Vieville and M Engelen and JM Cobben and J Juusola and A Pujol and JL Mandel and A Piton",

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Mattioli, F, Schaefer, E, Magee, A, Mark, P, Verheijen - Mancini, G, Dieterich, K, Von Allmen, G, Alders, M, Coutton, C, van Slegtenhorst, M, Vieville, G, Engelen, M, Cobben, JM, Juusola, J, Pujol, A, Mandel, JL & Piton, A 2017, 'Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis', American Journal of Human Genetics, vol. 100, no. 1, pp. 105-116. https://doi.org/10.1016/j.ajhg.2016.11.010

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T1 - Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

AU - Mattioli, F

AU - Schaefer, E

AU - Magee, A

AU - Mark, P

AU - Verheijen - Mancini, Grazia

AU - Dieterich, K

AU - Von Allmen, G

AU - Alders, M

AU - Coutton, C

AU - van Slegtenhorst, Marjon

AU - Vieville, G

AU - Engelen, M

AU - Cobben, JM

AU - Juusola, J

AU - Pujol, A

AU - Mandel, JL

AU - Piton, A

PY - 2017

Y1 - 2017

U2 - 10.1016/j.ajhg.2016.11.010

DO - 10.1016/j.ajhg.2016.11.010

M3 - Article

C2 - 27939639

SN - 0002-9297

VL - 100

SP - 105

EP - 116

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -