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?

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 65, Issue 2, 1996, Pages 97-99

  Lorenzetti, Maria Elena ^a,b   Fryns, Jean Pierre ^b,c  

^a UNIVERSITY OF PARMA   (Italy)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

Autosomal dominant inheritance; Cardio facio cutaneous (CFC) syndrome; Noonan syndrome; Retinitis pigmentosa

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; HUMAN; MALE; NOONAN SYNDROME; OPTIC DISK; PRIORITY JOURNAL; REFRACTION ERROR; RETINITIS PIGMENTOSA; STRABISMUS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; ANOREXIA; BRAIN; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MALE; NOONAN SYNDROME; PREGNANCY; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0029917390     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<97::AID-AJMG1>3.0.CO;2-R     Document Type: Article

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