𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genetic heterogeneity in leigh syndrome

✍ Scribed by Salvatore Dimauro; Darryl C. de Vivo


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
302 KB
Volume
40
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

✦ Synopsis


When, in 195 1, a young registrar named Denis Leigh

[I] was asked to describe the neuropathology of a 7month-old infant boy who had died 6 weeks after the clinical onset of a neurological disorder characterized


πŸ“œ SIMILAR VOLUMES


Genetic heterogeneity in Usher syndrome
✍ Keats, Bronya J.B. ;Savas, Sevtap πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 62 KB
Genetic heterogeneity in Peutz-Jeghers s
✍ Lisa A. Boardman; Fergus J. Couch; Lawrence J. Burgart; David Schwartz; Rebecca πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 244 KB πŸ‘ 2 views
Clinical and genetic heterogeneity of Se
✍ Faivre, L. ;Le Merrer, M. ;Lyonnet, S. ;Plauchu, H. ;Dagoneau, N. ;Campos-Xavier πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 143 KB πŸ‘ 1 views
Genetic and clinical heterogeneity of St
✍ Vintiner, Gillian M. ;Temple, I. Karen ;Middleton-Price, Helen R. ;Baraitser, Mi πŸ“‚ Article πŸ“… 1991 πŸ› John Wiley and Sons 🌐 English βš– 494 KB πŸ‘ 1 views

We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia, deafness, arthritis, characteristic facial changes with "flat" midface and cleft palate, although not all these were present in all families. COL2Al has been implicated as a