Hereditary eye disease

Contributing journals to this collection:
Archives of Disease in Childhood - Education and Practice, Archives of Disease in Childhood - Fetal and Neonatal Edition, and Archives of Disease in Childhood

Citations 1-4 of 4 total displayed.

Short reports
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

L Pasquier, V Laugel, L Lazaro, H Dollfus, H Journel, P Edery, A Goldenberg, D Martin, D Heron, M Le Merrer, P Rustin, S Odent, A Munnich, A Sarasin, V Cormier-Daire
Arch. Dis. Child. 2006; 91: 178-182. [Abstract][Full text][PDF][Request Permissions]  

Acute paediatrics
Hermansky–Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds

C Harrison, K Khair, B Baxter, I Russell-Eggitt, I Hann, R Liesner
Arch. Dis. Child. 2002; 86: 297-301. [Abstract][Full text][PDF][Request Permissions]  

Current topics
Oculocutaneous albinism

S Biswas, I C Lloyd
Arch. Dis. Child. 1999; 80: 565-569. [Extract][Full text][PDF][Request Permissions]  

Original articles
Clinical and laboratory findings in referrals for mitochondrial DNA analysis

P J Lamont, R Surtees, C E Woodward, J V Leonard, N W Wood, A E Harding
Arch. Dis. Child. 1998; 79: 22-27. [Abstract][Full text][PDF][Request Permissions]