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Decreased procollagen production in cultured fibroblasts from patients with Lowe's syndrome

โœ Scribed by M. J. Palmieri; J. O'Hara; B. States; S. Segal

Book ID
105314818
Publisher
Springer
Year
1985
Tongue
English
Weight
885 KB
Volume
8
Category
Article
ISSN
0141-8955

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Patient with multiple congenital anomali
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts
โœ Pavone, L. ;Incorpora, G. ;Fiumara, A. ;Sorge, G. ;Ramirez, F. ;McGarry, J. ;Woo ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 492 KB ๐Ÿ‘ 1 views

We report on a patient with hip and elbow dislocations, joint hyperextensibility, peculiar facial appearance, torticollis, cryptorchidism, unilateral hexadactyly, and other minor anomalies. Cultured cells from this patient produce less type I procollagen and have a slower rate of processing of type