Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? [electronic resource]
Producer: 19970219Description: 97-9 p. digitalISSN:- 0148-7299
- Abnormalities, Multiple -- genetics
- Adolescent
- Adult
- Anorexia -- complications
- Brain -- pathology
- Child
- Child, Preschool
- Developmental Disabilities -- complications
- Face -- abnormalities
- Female
- Heart Defects, Congenital -- complications
- Humans
- Infant
- Infant, Newborn
- Karyotyping
- Magnetic Resonance Imaging
- Male
- Noonan Syndrome -- complications
- Pregnancy
- Retinitis Pigmentosa -- complications
- Syndrome
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Publication Type: Case Reports; Journal Article; Review
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