TY  - GEN
AU  - Redwood,A
AU  - Douzgou,S
AU  - Waller,S
AU  - Ramsden,S
AU  - Roberts,A
AU  - Bonin,H
AU  - Lloyd,I C
AU  - Ashworth,J
AU  - Black,G C M
AU  - Clayton-Smith,J
TI  - Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms
SN  - 1878-0849
PY  - 2020///1019
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Cataract
KW  - congenital
KW  - Cohort Studies
KW  - Databases, Genetic
KW  - Female
KW  - Genes, X-Linked
KW  - Heart Septal Defects
KW  - diagnosis
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Microphthalmos
KW  - Mosaicism
KW  - Oligonucleotide Array Sequence Analysis
KW  - Pedigree
KW  - Phenotype
KW  - Point Mutation
KW  - Proto-Oncogene Proteins
KW  - Rare Diseases
KW  - Repressor Proteins
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2019.04.015
ER  -