Disorders


 

Arthrogryposis, Distal, Type 1B


Synonym(s): DA1B

 

OMIM

GeneLocusProtein
MYBPC112q23.2Myosin-binding protein C, slow-type

Laboratory Test Method Prenatal Carrier *
Cologne University, Institute of Human Genetics - Cologne, Germany• Sequence analysis of the entire coding region
• Linkage analysis
 

* 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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