Abstract
Noonan Syndrome is a clinically and genetically heterogeneous condition, with autosomal dominant inheritance, characterized by dinstintive facial features, congenital heart defects, postnatal growth retardation (weight and height), variable psycomotor delay, and other comorbidities (involvement of visual, lymphatic, coagulative, genital, skeletal, ectodermic and rarely hematopoietic system). Its estimated prevalence is 1:1,000-1:2,500 live births. Noonan syndrome is caused by mutations in genes coding for proteins with role in RAS-MAPK signal transduction pathway. So far, the identified disease genes (PTPN11, SOS1, KRAS, NRAS, RAF1 and BRAF) allow to confirm the diagnosis molecularly in approximately 75% of affected individuals.
| Original language | Italian |
|---|---|
| Pages (from-to) | 120-123 |
| Number of pages | 4 |
| Journal | Area Pediatrica |
| Volume | 12 |
| Issue number | 3 |
| Publication status | Published - Jun 2011 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Sindrome di Noonan. / Zampino, Giuseppe; Leoni, Chiara; Tartaglia, Marco.
In: Area Pediatrica, Vol. 12, No. 3, 06.2011, p. 120-123.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Sindrome di Noonan
AU - Zampino, Giuseppe
AU - Leoni, Chiara
AU - Tartaglia, Marco
PY - 2011/6
Y1 - 2011/6
N2 - Noonan Syndrome is a clinically and genetically heterogeneous condition, with autosomal dominant inheritance, characterized by dinstintive facial features, congenital heart defects, postnatal growth retardation (weight and height), variable psycomotor delay, and other comorbidities (involvement of visual, lymphatic, coagulative, genital, skeletal, ectodermic and rarely hematopoietic system). Its estimated prevalence is 1:1,000-1:2,500 live births. Noonan syndrome is caused by mutations in genes coding for proteins with role in RAS-MAPK signal transduction pathway. So far, the identified disease genes (PTPN11, SOS1, KRAS, NRAS, RAF1 and BRAF) allow to confirm the diagnosis molecularly in approximately 75% of affected individuals.
AB - Noonan Syndrome is a clinically and genetically heterogeneous condition, with autosomal dominant inheritance, characterized by dinstintive facial features, congenital heart defects, postnatal growth retardation (weight and height), variable psycomotor delay, and other comorbidities (involvement of visual, lymphatic, coagulative, genital, skeletal, ectodermic and rarely hematopoietic system). Its estimated prevalence is 1:1,000-1:2,500 live births. Noonan syndrome is caused by mutations in genes coding for proteins with role in RAS-MAPK signal transduction pathway. So far, the identified disease genes (PTPN11, SOS1, KRAS, NRAS, RAF1 and BRAF) allow to confirm the diagnosis molecularly in approximately 75% of affected individuals.
KW - Noonan syndrome
KW - Poor growth
KW - Pulmonary valve stenosis
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UR - http://www.scopus.com/inward/citedby.url?scp=79959900476&partnerID=8YFLogxK
M3 - Articolo
AN - SCOPUS:79959900476
VL - 12
SP - 120
EP - 123
JO - Area Pediatrica
JF - Area Pediatrica
SN - 1591-0075
IS - 3
ER -