Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome -: art. no. e68

被引：106

作者：

Sarkozy, A

Conti, E

Digilio, MC

Marino, B

Morini, E

Pacileo, G

Wilson, M

Calabrò, R

Pizzuti, A

Dallapiccola, B

机构：

[1] CSS Mendel Inst, I-00198 Rome, Italy

[2] IRCCS, CSS Hosp, San Giovanni Rotondo, Italy

[3] Univ Roma La Sapienza, Dept Expt Med & Pathol, Rome, Italy

[4] IRCCS, Bambino Gesu Hosp, Div Med Genet, Rome, Italy

[5] Univ Roma La Sapienza, Inst Pediat, Pediat Cardiol Sect, Rome, Italy

[6] Monaldi Hosp, Naples, Italy

[7] Childrens Hosp, Dept Clin Genet, Sydney, NSW, Australia

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 05期

关键词：

D O I：

10.1136/jmg.2003.013466

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：6

共 28 条

[21] Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes [J].

Sarkozy, A ;

Conti, E ;

Seripa, D ;

Digilio, MC ;

Grifone, N ;

Tandoi, C ;

Fazio, VM ;

Di Ciommo, V ;

Marino, B ;

Pizzuti, A ;

Dallapiccola, B .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (09) :704-708

[22]

SEUANEZ H, 1976, CLIN GENET, V9, P266

[23]

SOMERVILLE J, 1972, BRIT HEART J, V34, P58

[24]

Tartaglia M, 2002, NAT GENET, V30, P123

[25] PTPN11 mutations in Noonan syndrome:: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity [J].

Tartaglia, M ;

Kalidas, K ;

Shaw, A ;

Song, XL ;

Musat, DL ;

van der Burgt, I ;

Brunner, HG ;

Bertola, DR ;

Crosby, A ;

Ion, A ;

Kucherlapati, RS ;

Jeffery, S ;

Patton, MA ;

Gelb, BD .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) :1555-1563

[26] MULTIPLE LENTIGINES SYNDROME - CASE-REPORT AND REVIEW OF LITERATURE [J].

VORON, DA ;

HATFIELD, HH ;

KALKHOFF, RK .

AMERICAN JOURNAL OF MEDICINE, 1976, 60 (03) :447-456

[27]

Wu R, 1996, HUM MUTAT, V8, P51, DOI 10.1002/(SICI)1098-1004(1996)8:1<51::AID-HUMU7>3.3.CO

[28]

2-Z

← 1 2 3 →