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A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.
Hamadia Jan
Naveed Wasif
Syed Kamran-Ul-Hassan Naqvi
Imran Ullah
Wasim Ahmad
Published in:
Congenital anomalies (2023)
Keyphrases
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intellectual disability
muscular dystrophy
duchenne muscular dystrophy