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Genes and Genomic Entities
PCSK5
PCSK5
proprotein convertase subtilisin/kexin type 5
OMIM: 600488
,
Gene2Phenotype
1 panel
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Mode of inheritance
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Red
PCSK5
in
Currarino triad
Version 1.1
review
Unknown
Sources
Other
Phenotypes
cardiac, tracheoesophageal, anorectal, and anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, presacral mass, renal and palatal agenesis, and pulmonary hypoplasia