Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation

Kathryn Burdon; J Mckay; Michele Sale; I Russell-Eggit; David Mackey; M Wirth; J Elder; A Nicholl; M Clarke; L Fitzgerald; J Stankich; M Shaw; Shiwani Sharma; S Gajovic; P Gruss; S Ross; P Thomas; A Voss; T Thomas; J Gecz; Jamie Craig

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation

Kathryn Burdon, J Mckay, Michele Sale, I Russell-Eggit, David Mackey, M Wirth, J Elder, A Nicholl, M Clarke, L Fitzgerald, J Stankich, M Shaw, Shiwani Sharma, S Gajovic, P Gruss, S Ross, P Thomas, A Voss, T Thomas, J GeczJamie Craig

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

99 Citations (Scopus)

Original language	English
Pages (from-to)	1120-1130
Number of pages	11
Journal	American Journal of Human Genetics
Volume	73
Issue number	5
Publication status	Published - 2003

Cite this

Burdon, K., Mckay, J., Sale, M., Russell-Eggit, I., Mackey, D., Wirth, M., Elder, J., Nicholl, A., Clarke, M., Fitzgerald, L., Stankich, J., Shaw, M., Sharma, S., Gajovic, S., Gruss, P., Ross, S., Thomas, P., Voss, A., Thomas, T., ... Craig, J. (2003). Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation. American Journal of Human Genetics, 73(5), 1120-1130.

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title = "Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation",

author = "Kathryn Burdon and J Mckay and Michele Sale and I Russell-Eggit and David Mackey and M Wirth and J Elder and A Nicholl and M Clarke and L Fitzgerald and J Stankich and M Shaw and Shiwani Sharma and S Gajovic and P Gruss and S Ross and P Thomas and A Voss and T Thomas and J Gecz and Jamie Craig",

year = "2003",

language = "English",

volume = "73",

pages = "1120--1130",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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number = "5",

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Burdon, K, Mckay, J, Sale, M, Russell-Eggit, I, Mackey, D, Wirth, M, Elder, J, Nicholl, A, Clarke, M, Fitzgerald, L, Stankich, J, Shaw, M, Sharma, S, Gajovic, S, Gruss, P, Ross, S, Thomas, P, Voss, A, Thomas, T, Gecz, J & Craig, J 2003, 'Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation', American Journal of Human Genetics, vol. 73, no. 5, pp. 1120-1130.

TY - JOUR

T1 - Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation

AU - Burdon, Kathryn

AU - Mckay, J

AU - Sale, Michele

AU - Russell-Eggit, I

AU - Mackey, David

AU - Wirth, M

AU - Elder, J

AU - Nicholl, A

AU - Clarke, M

AU - Fitzgerald, L

AU - Stankich, J

AU - Shaw, M

AU - Sharma, Shiwani

AU - Gajovic, S

AU - Gruss, P

AU - Ross, S

AU - Thomas, P

AU - Voss, A

AU - Thomas, T

AU - Gecz, J

AU - Craig, Jamie

PY - 2003

Y1 - 2003

M3 - Article

VL - 73

SP - 1120

EP - 1130

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -