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Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Dev+Period+Med 2014 ; 18 (3): 285-96 Nephropedia Template TP
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The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes #MMPMID25182392
Bezniakow N; Gos M; Obersztyn E
Dev Period Med 2014[Jul]; 18 (3): 285-96 PMID25182392show ga
The RASopathies are a class of developmental syndromes. Each of them exhibits distinctive phenotypic features, although there are numerous overlapping clinical manifestations that include: dysmorphic craniofacial features, congenital cardiac defects, skin abnormalities, varying degrees of intellectual disability and increased risk of malignancies. These disorders include: Noonan syndrome, Costello syndrome, LEOPARD syndrome, cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM), Legius syndrome and neurofibromatosis type 1 (NF1). The RASopathies are associated with the presence of germline mutation in genes encoding specific proteins of the RAS/mitogen - activated protein kinase (MAPK) pathway that plays a crucial role in embryonic and postnatal development. In this review, we present the clinical and molecular features of selected syndromes from the RASopathies group.
|*Germ-Line Mutation[MESH]
|Arteriovenous Malformations/*genetics[MESH]
|Capillaries/*abnormalities[MESH]
|Costello Syndrome[MESH]
|Craniofacial Abnormalities/*genetics[MESH]
|Ectodermal Dysplasia/*genetics[MESH]
|Facies[MESH]
|Failure to Thrive/*genetics[MESH]
|Heart Defects, Congenital/*genetics[MESH]
|Humans[MESH]
|LEOPARD Syndrome/genetics[MESH]
|MAP Kinase Signaling System/genetics[MESH]
|Mitogen-Activated Protein Kinases/*genetics[MESH]