Isolated Fetal Macrodactyly: Phenotypic and Genetic Disparities in Mosaic Overgrowth Syndrome

被引：5

作者：

Bornstein, Eran ^{[1
]}

Bacino, Carlos A. ^{[2
]}

Maliszewski, Kristen ^{[2
]}

Delaney, Kim ^{[1
]}

Moyal, Reut ^{[1
]}

Divon, Michael Y. ^{[1
]}

机构：

[1] Lenox Hill Hosp, Dept Obstet & Gynecol, Div Maternal Fetal Med, New York, NY 10021 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

JOURNAL OF ULTRASOUND IN MEDICINE | 2014年 / 33卷 / 07期

关键词：

PROTEUS SYNDROME; ACTIVATING MUTATIONS; PIK3CA;

D O I：

10.7863/ultra.33.7.1305

中图分类号：

O42 [声学];

学科分类号：

070206 ; 082403 ;

摘要：

引用

页码：1305 / 1307

页数：3

共 8 条

[1] An Activating Mutation of AKT2 and Human Hypoglycemia [J].

Hussain, K. ;

Challis, B. ;

Rocha, N. ;

Payne, F. ;

Minic, M. ;

Thompson, A. ;

Daly, A. ;

Scott, C. ;

Harris, J. ;

Smillie, B. J. L. ;

Savage, D. B. ;

Ramaswami, U. ;

De Lonlay, P. ;

O'Rahilly, S. ;

Barroso, I. ;

Semple, R. K. .

SCIENCE, 2011, 334 (6055) :474-474

[2] Radiologic manifestations of Proteus syndrome [J].

Jamis-Dow, CA ;

Turner, J ;

Biesecker, LG ;

Choyke, PL .

RADIOGRAPHICS, 2004, 24 (04) :1051-1068

[3] Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome [J].

Kurek, Kyle C. ;

Luks, Valerie L. ;

Ayturk, Ugur M. ;

Alomari, Ahmad I. ;

Fishman, Steven J. ;

Spencer, Samantha A. ;

Mulliken, John B. ;

Bowen, Margot E. ;

Yamamoto, Guilherme L. ;

Kozakewich, Harry P. W. ;

Warman, Matthew L. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (06) :1108-1115

[4]

Lacombe D, 1996, CLIN DYSMORPHOL, V5, P255

[5] Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA [J].

Lindhurst, Marjorie J. ;

Parker, Victoria E. R. ;

Payne, Felicity ;

Sapp, Julie C. ;

Rudge, Simon ;

Harris, Julie ;

Witkowski, Alison M. ;

Zhang, Qifeng ;

Groeneveld, Matthijs P. ;

Scott, Carol E. ;

Daly, Allan ;

Huson, Susan M. ;

Tosi, Laura L. ;

Cunningham, Michael L. ;

Darling, Thomas N. ;

Geer, Joseph ;

Gucev, Zoran ;

Sutton, V. Reid ;

Tziotzios, Christos ;

Dixon, Adrian K. ;

Helliwell, Timothy ;

O'Rahilly, Stephen ;

Savage, David B. ;

Wakelam, Michael J. O. ;

Barroso, Ines ;

Biesecker, Leslie G. ;

Semple, Robert K. .

NATURE GENETICS, 2012, 44 (08) :928-+

[6] A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome [J].

Lindhurst, Marjorie J. ;

Sapp, Julie C. ;

Teer, Jamie K. ;

Johnston, Jennifer J. ;

Finn, Erin M. ;

Peters, Kathryn ;

Turner, Joyce ;

Cannons, Jennifer L. ;

Bick, David ;

Blakemore, Laurel ;

Blumhorst, Catherine ;

Brockmann, Knut ;

Calder, Peter ;

Cherman, Natasha ;

Deardorff, Matthew A. ;

Everman, David B. ;

Golas, Gretchen ;

Greenstein, Robert M. ;

Kato, B. Maya ;

Keppler-Noreuil, Kim M. ;

Kuznetsov, Sergei A. ;

Miyamoto, Richard T. ;

Newman, Kurt ;

Ng, David ;

O'Brien, Kevin ;

Rothenberg, Steven ;

Schwartzentruber, Douglas J. ;

Singhal, Virender ;

Tirabosco, Roberto ;

Upton, Joseph ;

Wientroub, Shlomo ;

Zackai, Elaine H. ;

Hoag, Kimberly ;

Whitewood-Neal, Tracey ;

Robey, Pamela G. ;

Schwartzberg, Pamela L. ;

Darling, Thomas N. ;

Tosi, Laura L. ;

Mullikin, James C. ;

Biesecker, Leslie G. .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (07) :611-619

[7] Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations [J].

Poduri, Annapurna ;

Evrony, Gilad D. ;

Cai, Xuyu ;

Elhosary, Princess Christina ;

Beroukhinn, Rameen ;

Lehtinen, Maria K. ;

Hills, L. Benjamin ;

Heinzen, Erin L. ;

Hill, Anthony ;

Hil, R. Sean ;

Barry, Brenda J. ;

Bourgeois, Blaise F. D. ;

Riviello, James J. ;

Barkovich, A. James ;

Black, Peter M. ;

Ligon, Keith L. ;

Walsh, Christopher A. .

NEURON, 2012, 74 (01) :41-48

[8] Prenatal diagnosis of isolated macrodactyly [J].

Yuksel, A. ;

Yagmur, H. ;

Kural, B. S. .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2009, 33 (03) :360-362

← 1 →