Hereditary eye disease

PO-0675 Prevalence Of Mutation C.11864g >a (p. Trp3955x) In The Ush2a Gene In Patients With Usher Ii Syndrome From Volga-ural Region Of Russia
L Dzhemileva, S Lobov, D Kuznetzov, R Valiev, A Mukminov, V Ahmetova, R Khusainova, A Karunas, I Khidiyatova, N Barashkov, S Fedorova, O Posukh, E Khusnutdinova

Archives of Disease in Childhood Oct 2014, 99 (Suppl 2) A475; DOI: 10.1136/archdischild-2014-307384.1316
PO-0823 Hypoparathyroidism As The First Manifestation Of Kearns-sayre Syndrome: A Case Report
S Elmi, REZA Erfani Sayyar, SAM Elmi

Archives of Disease in Childhood Oct 2014, 99 (Suppl 2) A523; DOI: 10.1136/archdischild-2014-307384.1456
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

Archives of Disease in Childhood Feb 2006, 91 (2) 178-182; DOI: 10.1136/adc.2005.080473
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

Archives of Disease in Childhood Jul 1998, 79 (1) 22-27; DOI: 10.1136/adc.79.1.22
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

Archives of Disease in Childhood Apr 2002, 86 (4) 297-301; DOI: 10.1136/adc.86.4.297
Oculocutaneous albinism
S Biswas, I C Lloyd

Archives of Disease in Childhood Jun 1999, 80 (6) 565-569; DOI: 10.1136/adc.80.6.565

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Hereditary eye disease