Disorders


 

Poikiloderma with Neutropenia


Synonym(s): Poikiloderma with Neutropenia, Clericuzio-Type

 

OMIM

GeneLocusProtein
USB116q13UPF0406 protein C16orf57

Laboratory Test Method Prenatal Carrier *
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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