Journal article

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited

LC Ades, K Sullivan, A Biggin, EA Haan, M Brett, KJ Holman, J Dixon, S Robertson, AD Holmes, J Rogers, B Bennetts

American Journal of Medical Genetics Part A | WILEY | Published : 2006

DOI: 10.1002/ajmg.a.31202

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Keywords

Genetics & Heredity
Activin Receptors, Type I
Dna Mutational Analysis
Pathogenesis
Adult
Mutation
Adolescent
Abnormalities, Multiple
Deletion
Science & Technology
Gene
Intellectual Disability
Syndrome
Protein-Serine-Threonine Kinases
Infant
Molecular Pathology
Tgf-Beta Signaling Pathway Disorder
Marfanoid-Craniosynostosis/retardation Syndromes
Fibrillins
Marfan Syndrome
Child
Chromosome Deletion
Male
Habitus
Craniosynostoses
Life Sciences & Biomedicine
Receptors, Transforming Growth Factor Beta
Mutations
Shprintzen-Goldberg-Syndrome
Humans
Fibrillin-1
Microfilament Proteins
Receptor, Transforming Growth Factor-Beta Type I
Fbn1