Germline mutation of the tumour suppressor PTEN in Proteus syndrome

被引：82

作者：

Smith, JM

Kirk, EPE

Theodosopoulos, G

Marshall, GM

Walker, J

Rogers, M

Field, M

Brereton, JJ

Marsh, DJ ^{[1
]}

机构：

[1] Royal N Shore Hosp, Kolling Inst Med Res, St Leonards, NSW 2065, Australia

[2] Univ Sydney, Dept Mol Med, St Leonards, NSW 2065, Australia

[3] Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW 2031, Australia

[4] Sydney Childrens Hosp, Ctr Childrens Canc & Blood Disorders, Randwick, NSW 2031, Australia

[5] Sydney Childrens Hosp, Dept Endocrinol, Randwick, NSW 2031, Australia

[6] Childrens Westmead Hosp, Dept Dermatol, Westmead, NSW 2145, Australia

[7] Wollongong Hosp, Wollongong, NSW 2500, Australia

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 12期

关键词：

D O I：

10.1136/jmg.39.12.937

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：937 / 940

页数：4

共 19 条

[1] PTEN mutations are uncommon in Proteus syndrome [J].

Barker, K ;

Martinez, A ;

Wang, R ;

Bevan, S ;

Murday, V ;

Shipley, J ;

Houlston, R ;

Harper, J .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (07) :480-481

[2] PROTEUS SYNDROME VERSUS BANNAYAN-ZONANA SYNDROME - A PROBLEM IN DIFFERENTIAL-DIAGNOSIS [J].

BIALER, MG ;

RIEDY, MJ ;

WILSON, WG .

EUROPEAN JOURNAL OF PEDIATRICS, 1988, 148 (02) :122-125

[3]

Biesecker LG, 1999, AM J MED GENET, V84, P389, DOI 10.1002/(SICI)1096-8628(19990611)84:5<389::AID-AJMG1>3.0.CO

[4]

2-O

[5]

Biesecker LG, 2001, LANCET, V358, P2079, DOI 10.1016/S0140-6736(01)07109-4

[6] PROTEUS SYNDROME - CLINICAL-EVIDENCE FOR SOMATIC MOSAICISM AND SELECTIVE REVIEW [J].

COHEN, MM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (05) :645-652

[7] FURTHER DIAGNOSTIC THOUGHTS ABOUT THE ELEPHANT MAN [J].

COHEN, MM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (04) :777-782

[8] Pten is essential for embryonic development and tumour suppression [J].

Di Cristofano, A ;

Pesce, B ;

Cordon-Cardo, C ;

Pandolfi, PP .

NATURE GENETICS, 1998, 19 (04) :348-355

[9]

Georgescu MM, 2000, CANCER RES, V60, P7033

[10] NEOPLASMS IN PROTEUS SYNDROME [J].

GORDON, PL ;

WILROY, RS ;

LASATER, OE ;

COHEN, MM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 57 (01) :74-78

← 1 2 →