Noonan syndrome

被引：624

作者：

Roberts, Amy E. ^{[1
,2
]}

Allanson, Judith E. ^{[3
]}

Tartaglia, Marco ^{[4
]}

Gelb, Bruce D. ^{[5
,6
]}

机构：

[1] Childrens Hosp, Dept Cardiol, Boston, MA 02115 USA

[2] Childrens Hosp, Div Genet, Boston, MA 02115 USA

[3] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

[4] Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

[5] Mt Sinai Sch Med, Child Hlth & Dev Inst, Dept Pediat, New York, NY USA

[6] Mt Sinai Sch Med, Child Hlth & Dev Inst, Dept Genet & Genom Sci, New York, NY USA

来源：

LANCET | 2013年 / 381卷 / 9863期

关键词：

JUVENILE MYELOMONOCYTIC LEUKEMIA; PROTEIN-TYROSINE-PHOSPHATASE; FACIO-CUTANEOUS SYNDROME; GERMLINE KRAS MUTATIONS; CELL LESION SYNDROME; OF-THE-LITERATURE; SOMATIC PTPN11 MUTATIONS; GROWTH-HORMONE TREATMENT; TERM-FOLLOW-UP; COSTELLO-SYNDROME;

D O I：

10.1016/S0140-6736(12)61023-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype-phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.

引用

页码：333 / 342

页数：10

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