Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. [electronic resource]
Producer: 19960325Description: 259-68 p. digitalISSN:- 1015-8146
- Abnormalities, Multiple -- genetics
- Adolescent
- Adult
- Child
- Dwarfism -- genetics
- Facial Bones -- abnormalities
- Facies
- Female
- Genetic Carrier Screening
- Hand Deformities, Congenital -- genetics
- Humans
- Infant
- Intellectual Disability -- genetics
- Male
- Middle Aged
- Phenotype
- Scoliosis -- genetics
- Sex Chromosome Aberrations -- genetics
- Skull -- abnormalities
- Syndrome
- X Chromosome
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Publication Type: Case Reports; Journal Article
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