Delineating the expanding phenotype associated with SCAPER gene mutation

James Fasham; Gavin Arno; Siying Lin; Mingchu Xu; Keren J. Carss; Sarah Hull; Amelia Lane; Anthony G. Robson; Olivia Wenger; Jay E. Self; Gaurav V. Harlalka; Claire G. Salter; Lynn Schema; Timothy J. Moss; Michael E. Cheetham; Anthony T Moore; F. Lucy Raymond; Rui Chen; Emma L. Baple; Andrew R. Webster; Andrew H. Crosby

doi:10.1002/ajmg.a.61202

Delineating the expanding phenotype associated with SCAPER gene mutation

James Fasham, Gavin Arno, Siying Lin, Mingchu Xu, Keren J. Carss, Sarah Hull, Amelia Lane, Anthony G. Robson, Olivia Wenger, Jay E. Self, Gaurav V. Harlalka, Claire G. Salter, Lynn Schema, Timothy J. Moss, Michael E. Cheetham, Anthony T Moore, F. Lucy Raymond, Rui Chen, Emma L. Baple, Andrew R. WebsterAndrew H. Crosby

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Letter › peer-review

Original language	English
Pages (from-to)	1665-1671
Number of pages	7
Journal	American Journal of Medical Genetics Part A
Volume	179
Issue number	8
Early online date	13 Jun 2019
DOIs	https://doi.org/10.1002/ajmg.a.61202
Publication status	Published - Aug 2019

Keywords

Brachydactyly
CCNA2–CDK2
intellectual disability
retinitis pigmentosa
SCAPER

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10.1002/ajmg.a.61202Licence: CC BY

Cite this

Fasham, J., Arno, G., Lin, S., Xu, M., Carss, K. J., Hull, S., Lane, A., Robson, A. G., Wenger, O., Self, J. E., Harlalka, G. V., Salter, C. G., Schema, L., Moss, T. J., Cheetham, M. E., Moore, A. T., Raymond, F. L., Chen, R., Baple, E. L., ... Crosby, A. H. (2019). Delineating the expanding phenotype associated with SCAPER gene mutation. American Journal of Medical Genetics Part A, 179(8), 1665-1671. https://doi.org/10.1002/ajmg.a.61202

@article{f4b72ddabddb4b89a897a78a8155f697,

title = "Delineating the expanding phenotype associated with SCAPER gene mutation",

keywords = "Brachydactyly, CCNA2–CDK2, intellectual disability, retinitis pigmentosa, SCAPER",

author = "James Fasham and Gavin Arno and Siying Lin and Mingchu Xu and Carss, {Keren J.} and Sarah Hull and Amelia Lane and Robson, {Anthony G.} and Olivia Wenger and Self, {Jay E.} and Harlalka, {Gaurav V.} and Salter, {Claire G.} and Lynn Schema and Moss, {Timothy J.} and Cheetham, {Michael E.} and Moore, {Anthony T} and Raymond, {F. Lucy} and Rui Chen and Baple, {Emma L.} and Webster, {Andrew R.} and Crosby, {Andrew H.}",

year = "2019",

month = aug,

doi = "10.1002/ajmg.a.61202",

language = "English",

volume = "179",

pages = "1665--1671",

journal = "American Journal of Medical Genetics Part A",

issn = "1552-4825",

publisher = "John Wiley & Sons Ltd",

number = "8",

}

Fasham, J, Arno, G, Lin, S, Xu, M, Carss, KJ, Hull, S, Lane, A, Robson, AG, Wenger, O, Self, JE, Harlalka, GV, Salter, CG, Schema, L, Moss, TJ, Cheetham, ME, Moore, AT, Raymond, FL, Chen, R, Baple, EL, Webster, AR & Crosby, AH 2019, 'Delineating the expanding phenotype associated with SCAPER gene mutation', American Journal of Medical Genetics Part A, vol. 179, no. 8, pp. 1665-1671. https://doi.org/10.1002/ajmg.a.61202

TY - JOUR

T1 - Delineating the expanding phenotype associated with SCAPER gene mutation

AU - Fasham, James

AU - Arno, Gavin

AU - Lin, Siying

AU - Xu, Mingchu

AU - Carss, Keren J.

AU - Hull, Sarah

AU - Lane, Amelia

AU - Robson, Anthony G.

AU - Wenger, Olivia

AU - Self, Jay E.

AU - Harlalka, Gaurav V.

AU - Salter, Claire G.

AU - Schema, Lynn

AU - Moss, Timothy J.

AU - Cheetham, Michael E.

AU - Moore, Anthony T

AU - Raymond, F. Lucy

AU - Chen, Rui

AU - Baple, Emma L.

AU - Webster, Andrew R.

AU - Crosby, Andrew H.

PY - 2019/8

Y1 - 2019/8

KW - Brachydactyly

KW - CCNA2–CDK2

KW - intellectual disability

KW - retinitis pigmentosa

KW - SCAPER

U2 - 10.1002/ajmg.a.61202

DO - 10.1002/ajmg.a.61202

M3 - Letter

SN - 1552-4825

VL - 179

SP - 1665

EP - 1671

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 8

ER -