Add to ORKGIn this report we describe two non-related patients, a 12-year-old girl and 3 6/12-year-old boy, with Costello syndrome. Costello syndrome is a true MCA/MR syndrome with severe postnatal growth retardation as the first clinical sign. Characteristic facial changes, loose, hyperelastic skin and papillomata become progressively more evident with age. Patients with Costello syndrome present a pleasant, happy nature and are mildly to moderately mentally retarded.status: publishe
Abstract Background Costello syndrome (CS, OMIM 218040) is a rare congenital disorder caused by muta...
Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, der...
AbstractCostello syndrome is a rare syndrome associated with de novo mutations in the HRAS gene. It ...
An 8-month-old boy having multiple congenital anomalies (MCA) and mental retardation (MR) as part of...
We present the natural history of a female child with Costello syndrome from birth to the present ag...
In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, cu...
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by sof...
We report on three patients with Costello syndrome (CS) diagnosed during the first year of life and ...
Costello syndrome (CS) was described in 1977 by Costello who reported two unrelated children with a ...
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiqui...
The authors describe a girl with Costello syndrome who showed cerebral palsy and neurosensorial deaf...
Background: Costello syndrome(CS) is a rare autosomal dominant genetically transmitted disease, with...
We report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. ...
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities...
Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the f...
Abstract Background Costello syndrome (CS, OMIM 218040) is a rare congenital disorder caused by muta...
Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, der...
AbstractCostello syndrome is a rare syndrome associated with de novo mutations in the HRAS gene. It ...
An 8-month-old boy having multiple congenital anomalies (MCA) and mental retardation (MR) as part of...
We present the natural history of a female child with Costello syndrome from birth to the present ag...
In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, cu...
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by sof...
We report on three patients with Costello syndrome (CS) diagnosed during the first year of life and ...
Costello syndrome (CS) was described in 1977 by Costello who reported two unrelated children with a ...
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiqui...
The authors describe a girl with Costello syndrome who showed cerebral palsy and neurosensorial deaf...
Background: Costello syndrome(CS) is a rare autosomal dominant genetically transmitted disease, with...
We report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. ...
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities...
Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the f...
Abstract Background Costello syndrome (CS, OMIM 218040) is a rare congenital disorder caused by muta...
Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, der...
AbstractCostello syndrome is a rare syndrome associated with de novo mutations in the HRAS gene. It ...