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A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex
L. I. Al-Gazali
, M. Bakir
, Z. M. Hamid
, D. K. Nair
, D. Haas
, I. Amirlak
, A. Rushdi
Department of Pediatrics
Zayed Center Health Sciences
Research output
:
Contribution to journal
›
Article
›
peer-review
4
Citations (Scopus)
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Keyphrases
New Syndrome
100%
Coloboma
100%
Renal Abnormalities
100%
Renal Coloboma Syndrome
100%
Arthrogryposis multiplex
100%
PAX2 Gene
50%
Autosomal Recessive Inheritance
50%
Renal Hypoplasia
25%
Variable Combination
25%
Developmental Disorders
25%
Variable Phenotype
25%
Axon
25%
Vesicoureteral Reflux
25%
Arab Family
25%
Medicine and Dentistry
Coloboma
100%
Optic Nerve
100%
Arthrogryposis
100%
Autosomal Dominant Inheritance
25%
Developmental Disorder
12%
Vesicoureteral Reflux
12%
Joint Laxity
12%
Kidney Hypoplasia
12%
Axon
12%
Biochemistry, Genetics and Molecular Biology
PAX2
100%
Autosomal Dominant Inheritance
100%
Axon
50%