pseudotrisomy 13 syndrome

pseudotrisomy 13 syndrome

An autosomal recessive condition (OMIM:264480) characterised by holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and a normal karyotype.

Molecular pathology
Mutation of FBXW11 on chromosome 5q35.1, which encodes an F-box protein that plays an essential role in the
control of clock-dependent transcription via degradation of PER1 and phosphorylated PER2.
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