Browsing by Author "McInnes, RR"

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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

Percin, EF; Ploder, LA; Yu, JJ; Arici, K; Horsford, DJ; Rutherford, A; Bapat, B; Cox, DW; Duncan, AMV; Kalnins, VI; Kocak-Altintas, A; Sowden, JC; Traboulsi, E; Sarfarazi, M; McInnes, RR (NATURE PUBLISHING GROUP, 2000)

Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocular abnormalities. Three ...
A new locus for autosomal recessive Congenital Microphthalmia maps to 14q24.3 and caused by a homozygous mutation in the CHX10 gene.

Percin, EF; Arici, K; Horsford, DJ; Kocak-Altintas, A; Akarsu, AN; McInnes, RR; Sarfarazi, M (UNIV CHICAGO PRESS, 1999)

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