Orthopedic manifestations and implications for individuals with Costello syndrome

Author:

Detweiler Stacey1,Thacker Mihir M.2,Hopkins Elizabeth3,Conway Laura1,Gripp Karen W.3

Affiliation:

1. Genetic Counseling Program; Arcadia University; Glenside; Pennsylvania

2. Department of Orthopedics; A.I. duPont Hospital for Children; Wilmington; Delaware

3. Division of Medical Genetics; A.I. duPont Hospital for Children; Wilmington; Delaware

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nat Genet,2005

2. Further delineation of cardio-facio-cutaneous syndrome: Clinical features of 38 individuals with proven mutations;Armour;J Med Genet,2008

3. Costello syndrome: A Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations;Gripp;Genet Med,2012a

4. Gripp KW Lin AE Costello syndrome in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online] http://www.ncbi.nlm.nih.gov/books/NBK1507

5. Acetabular growth potential in congenital dislocation of the hip and some factors upon which it may depend;Harris;Clin Orthop Relat Res,1976

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1. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing;Psychiatry Research Case Reports;2023-12

2. Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes;Frontiers in Endocrinology;2023-10-27

3. Fatal leukodystrophy in Costello syndrome: a case report;BMC Pediatrics;2023-07-24

4. RASopathies and spinal deformities for screening of scoliosis;Pediatrics International;2023-01

5. Bone health in RASopathies;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-12

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