Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

Kim M. Keppler-Noreuil; Julie C. Sapp; Marjorie J. Lindhurst; Victoria E.R. Parker; Cathy Blumhorst; Thomas Darling; Laura L. Tosi; Susan M. Huson; Richard W. Whitehouse; Eveliina Jakkula; Ian Grant; Meena Balasubramanian; Kate E. Chandler; Jamie L. Fraser; Zoran Gucev; Yanick J. Crow; Leslie Manace Brennan; Robin Clark; Elizabeth A. Sellars; Loren Dm Pena; Vidya Krishnamurty; Andrew Shuen; Nancy Braverman; Michael L. Cunningham; V. Reid Sutton; Velibor Tasic; John M. Graham; Joseph Geer; Alex Henderson; Robert K. Semple; Leslie G. Biesecker

doi:10.1002/ajmg.a.36552

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

Kim M. Keppler-Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E.R. Parker, Cathy Blumhorst, Thomas Darling, Laura L. Tosi, Susan M. Huson, Richard W. Whitehouse, Eveliina Jakkula, Ian Grant, Meena Balasubramanian, Kate E. Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin Clark, Elizabeth A. Sellars, Loren Dm PenaVidya Krishnamurty, Andrew Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasic, John M. Graham, Joseph Geer, Alex Henderson, Robert K. Semple, Leslie G. Biesecker

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

Original language	English
Pages (from-to)	1713-1733
Number of pages	21
Journal	American Journal of Medical Genetics, Part A
Volume	164
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.36552
State	Published - Jul 2014

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

CLOVES syndrome
Fibroadipose overgrowth
Macrodactyly
PIK3CA gene
Segmental overgrowth
Somatic mosaicism

Access to Document

10.1002/ajmg.a.36552

OpenUrl availability

Full text

Cite this

Keppler-Noreuil, K. M., Sapp, J. C., Lindhurst, M. J., Parker, V. E. R., Blumhorst, C., Darling, T., Tosi, L. L., Huson, S. M., Whitehouse, R. W., Jakkula, E., Grant, I., Balasubramanian, M., Chandler, K. E., Fraser, J. L., Gucev, Z., Crow, Y. J., Brennan, L. M., Clark, R., Sellars, E. A., ... Biesecker, L. G. (2014). Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. American Journal of Medical Genetics, Part A, 164(7), 1713-1733. https://doi.org/10.1002/ajmg.a.36552

Keppler-Noreuil, KM, Sapp, JC, Lindhurst, MJ, Parker, VER, Blumhorst, C, Darling, T, Tosi, LL, Huson, SM, Whitehouse, RW, Jakkula, E, Grant, I, Balasubramanian, M, Chandler, KE, Fraser, JL, Gucev, Z, Crow, YJ, Brennan, LM, Clark, R, Sellars, EA, Pena, LD, Krishnamurty, V, Shuen, A, Braverman, N, Cunningham, ML, Sutton, VR, Tasic, V, Graham, JM, Geer, J, Henderson, A, Semple, RK & Biesecker, LG 2014, 'Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum', American Journal of Medical Genetics, Part A, vol. 164, no. 7, pp. 1713-1733. https://doi.org/10.1002/ajmg.a.36552

@article{b5c5dc065769420bb693044b83d64db2,

title = "Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum",

keywords = "CLOVES syndrome, Fibroadipose overgrowth, Macrodactyly, PIK3CA gene, Segmental overgrowth, Somatic mosaicism",

author = "Keppler-Noreuil, {Kim M.} and Sapp, {Julie C.} and Lindhurst, {Marjorie J.} and Parker, {Victoria E.R.} and Cathy Blumhorst and Thomas Darling and Tosi, {Laura L.} and Huson, {Susan M.} and Whitehouse, {Richard W.} and Eveliina Jakkula and Ian Grant and Meena Balasubramanian and Chandler, {Kate E.} and Fraser, {Jamie L.} and Zoran Gucev and Crow, {Yanick J.} and Brennan, {Leslie Manace} and Robin Clark and Sellars, {Elizabeth A.} and Pena, {Loren Dm} and Vidya Krishnamurty and Andrew Shuen and Nancy Braverman and Cunningham, {Michael L.} and Sutton, {V. Reid} and Velibor Tasic and Graham, {John M.} and Joseph Geer and Alex Henderson and Semple, {Robert K.} and Biesecker, {Leslie G.}",

year = "2014",

month = jul,

doi = "10.1002/ajmg.a.36552",

language = "English",

volume = "164",

pages = "1713--1733",

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

issn = "1552-4825",

number = "7",

}

TY - JOUR

T1 - Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

AU - Keppler-Noreuil, Kim M.

AU - Sapp, Julie C.

AU - Lindhurst, Marjorie J.

AU - Parker, Victoria E.R.

AU - Blumhorst, Cathy

AU - Darling, Thomas

AU - Tosi, Laura L.

AU - Huson, Susan M.

AU - Whitehouse, Richard W.

AU - Jakkula, Eveliina

AU - Grant, Ian

AU - Balasubramanian, Meena

AU - Chandler, Kate E.

AU - Fraser, Jamie L.

AU - Gucev, Zoran

AU - Crow, Yanick J.

AU - Brennan, Leslie Manace

AU - Clark, Robin

AU - Sellars, Elizabeth A.

AU - Pena, Loren Dm

AU - Krishnamurty, Vidya

AU - Shuen, Andrew

AU - Braverman, Nancy

AU - Cunningham, Michael L.

AU - Sutton, V. Reid

AU - Tasic, Velibor

AU - Graham, John M.

AU - Geer, Joseph

AU - Henderson, Alex

AU - Semple, Robert K.

AU - Biesecker, Leslie G.

PY - 2014/7

Y1 - 2014/7

KW - CLOVES syndrome

KW - Fibroadipose overgrowth

KW - Macrodactyly

KW - PIK3CA gene

KW - Segmental overgrowth

KW - Somatic mosaicism

UR - http://www.scopus.com/inward/record.url?scp=84902543512&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84902543512&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.36552

DO - 10.1002/ajmg.a.36552

M3 - Article

C2 - 24782230

AN - SCOPUS:84902543512

SN - 1552-4825

VL - 164

SP - 1713

EP - 1733

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 7

ER -

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

ASJC Scopus Subject Areas

Keywords

Access to Document

OpenUrl availability

Other files and links

Cite this