TY  - GEN
AU  - Arrigoni,Francesca I
AU  - Matarin,Mar
AU  - Thompson,Pamela J
AU  - Michaelides,Michel
AU  - McClements,Michelle E
AU  - Redmond,Elizabeth
AU  - Clarke,Lindsey
AU  - Ellins,Elizabeth
AU  - Mohamed,Saifullah
AU  - Pavord,Ian
AU  - Klein,Nigel
AU  - Hunt,David M
AU  - Moore,Anthony T
AU  - Halcox,Julian
AU  - Sisodiya,Sanjay M
TI  - Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
SN  - 1476-5438
PY  - 2011///0504
KW  - AC133 Antigen
KW  - Abortion, Spontaneous
KW  - genetics
KW  - Adult
KW  - Aged
KW  - Antigens, CD
KW  - Cognition
KW  - Empty Sella Syndrome
KW  - diagnostic imaging
KW  - Endothelial Cells
KW  - pathology
KW  - Family
KW  - Female
KW  - Genes, Dominant
KW  - Glycoproteins
KW  - Hematuria
KW  - Hippocampus
KW  - Humans
KW  - Kidney Diseases
KW  - Macular Degeneration
KW  - Magnetic Resonance Imaging
KW  - Mutation, Missense
KW  - Peptides
KW  - Phenotype
KW  - Radiography
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2010.147
ER  -