Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene
A. Watanabe, Y. Kawabata, O. Okada, N. Tanabe, H. Kimura, A. Hatamochi, H. Shinkai, N. Sakai, T. Shimada, K. Hiroshima, T. Kuriyama
European Respiratory Journal Jan 2002, 19 (1) 195-198; DOI: 10.1183/09031936.02.00219202