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Intrafamilial variability in Fraser syndrome
Pankaj Prasun
, Mandakini Pradhan
, Himanshu Goel
Research output
:
Contribution to journal
›
Article
›
peer-review
15
Scopus citations
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Keyphrases
Intrafamilial Variability
100%
Fraser Syndrome
100%
Clinical Heterogeneity
50%
Intellectual Disability
25%
Disease Severity
25%
Autosomal Recessive
25%
Malformation
25%
Genetic Matching
25%
Lethal Phenotype
25%
Normal Kidney
25%
Mild Phenotype
25%
Degree of Severity
25%
Syndactyly
25%
Genitourinary Tract
25%
Craniofacial Dysmorphism
25%
Orofacial Clefting
25%
Bilateral Renal Agenesis
25%
Cryptophthalmos
25%
Musculoskeletal Anomalies
25%
Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Disorder
100%