TY  - GEN
AU  - Malandrini,A
AU  - Mari,F
AU  - Palmeri,S
AU  - Gambelli,S
AU  - Berti,G
AU  - Bruttini,M
AU  - Bardelli,A M
AU  - Williamson,K
AU  - van Heyningen,V
AU  - Renieri,A
TI  - PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
SN  - 0009-9163
PY  - 2001///1011
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Aniridia
KW  - pathology
KW  - Blepharoptosis
KW  - DNA
KW  - chemistry
KW  - DNA Mutational Analysis
KW  - Eye Proteins
KW  - Family Health
KW  - Female
KW  - Homeodomain Proteins
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Mutation, Missense
KW  - PAX6 Transcription Factor
KW  - Paired Box Transcription Factors
KW  - Pedigree
KW  - Polymorphism, Single-Stranded Conformational
KW  - Repressor Proteins
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1034/j.1399-0004.2001.600210.x
ER  -