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Mutations in PIK3R1 Cause SHORT Syndrome

Mutations in PIK3R1 Cause SHORT Syndrome
Mutations in PIK3R1 Cause SHORT Syndrome
0002-9297
158-166
Dyment, David A.
b2ef5ce3-2da4-4a0d-ab1f-7fa548c3b2a1
Smith, Amanda C.
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Alcantara, Diana
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Schwartzentruber, Jeremy A.
dcce8ad8-98ba-4c4a-8d26-11cd7221ab3f
Basel-Vanagaite, Lina
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Curry, Cynthia J.
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Temple, I. Karen
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Reardon, William
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Mansour, Sahar
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Haq, Mushfequr R.
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Gilbert, Rodney
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Lehmann, Ordan J.
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Vanstone, Megan R.
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Beaulieu, Chandree L.
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Majewski, Jacek
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Bulman, Dennis E.
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O’Driscoll, Mark
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Boycott, Kym M.
aca4455e-b447-4b21-9fd1-f678007e574e
Innes, A. Micheil
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Dyment, David A.
b2ef5ce3-2da4-4a0d-ab1f-7fa548c3b2a1
Smith, Amanda C.
1a532362-d8c0-4617-bcc6-8db931115b6a
Alcantara, Diana
18068f25-18c2-4803-a69c-2a263310f8ef
Schwartzentruber, Jeremy A.
dcce8ad8-98ba-4c4a-8d26-11cd7221ab3f
Basel-Vanagaite, Lina
e0dd98d0-9656-4d36-90c6-f8583fafe9ac
Curry, Cynthia J.
6e21a65e-ca44-4348-acfb-17147937d639
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Reardon, William
8994b83a-aacf-42cc-896b-8dab559c128c
Mansour, Sahar
fcece354-b435-46fb-8acf-184dad0ed4c2
Haq, Mushfequr R.
afcc73f0-a56a-4527-b6a0-ad37b4206b1a
Gilbert, Rodney
2a1da00f-9bfc-4859-a473-41ca462019db
Lehmann, Ordan J.
0b601251-8742-4a9e-a120-c18829aa409c
Vanstone, Megan R.
fc5aca12-5c81-4b58-9b50-4160e8bce654
Beaulieu, Chandree L.
0505b48d-4ea5-4e81-b9f5-f9b724f722bb
Majewski, Jacek
c9704a60-4bff-4e72-8290-78d2aec5ed28
Bulman, Dennis E.
9ae03045-606b-46fe-a519-e883b3fb3dad
O’Driscoll, Mark
8d56070f-74bf-4506-ae70-3f7907b43ff8
Boycott, Kym M.
aca4455e-b447-4b21-9fd1-f678007e574e
Innes, A. Micheil
ff3bfe99-f379-4b31-a914-8a6de1ec3487

Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M. and Innes, A. Micheil (2013) Mutations in PIK3R1 Cause SHORT Syndrome. The American Journal of Human Genetics, 93 (1), 158-166. (doi:10.1016/j.ajhg.2013.06.005).

Record type: Article

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More information

e-pub ahead of print date: 24 June 2013
Published date: 11 July 2013
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 354227
URI: http://eprints.soton.ac.uk/id/eprint/354227
ISSN: 0002-9297
PURE UUID: b8d54162-a012-480a-9961-3c7b439ca87d
ORCID for I. Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 05 Jul 2013 13:50
Last modified: 09 Jan 2022 02:58

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Contributors

Author: David A. Dyment
Author: Amanda C. Smith
Author: Diana Alcantara
Author: Jeremy A. Schwartzentruber
Author: Lina Basel-Vanagaite
Author: Cynthia J. Curry
Author: I. Karen Temple ORCID iD
Author: William Reardon
Author: Sahar Mansour
Author: Mushfequr R. Haq
Author: Rodney Gilbert
Author: Ordan J. Lehmann
Author: Megan R. Vanstone
Author: Chandree L. Beaulieu
Author: Jacek Majewski
Author: Dennis E. Bulman
Author: Mark O’Driscoll
Author: Kym M. Boycott
Author: A. Micheil Innes

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