Pathology teach and tell: Neonatal Marfan syndrome

Pediatric Pathology and Molecular Medicine

Volumn 20, Issue 3, 2001, Pages 235-239

  Chang, R K R ^a   Lin, H J ^a   Fishbein, M C ^a  

^a HARBOR UCLA MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CAUSE OF DEATH; DISEASE COURSE; FEMALE; HISTOPATHOLOGY; HUMAN; MARFAN SYNDROME; NEWBORN; PRIORITY JOURNAL;

EID: 0035038695     PISSN: 15227952     EISSN: None     Source Type: Journal    
DOI: 10.1080/15513810109168617     Document Type: Article

References (11)

1. The Marfan syndrome: Diagnosis and management
2. The molecular genetics of Marfan syndrome and related microfibrillopathies
3. Revised diagnostic criteria for the Marfan syndrome
4. The Marfan syndrome in early childhood: Analysis of 15 patients diagnosed at less than 4 years of age
5. Neonatal Marfan syndrome: A case report
6. Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome
7. Hiatus/paraesophageal hernias in neonatal Marfan syndrome
8. Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene
9. Novel exon skipping mutation in the fibrillin-1 gene: Two "hot spots" for the neonatal Marfan syndrome
10. Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome
11. A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MFS). Mutations in brief no. 163. Online