Disorders


 

HES7-Related Spondylocostal Dysostosis, Autosomal Recessive


Synonym(s): SCDO4, Spondylocostal Dysostosis, Autosomal Recessive 4

 

OMIM

GeneLocusProtein
HES717p13.1Transcription factor HES-7

Laboratory Test Method Prenatal Carrier *
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• Sequence analysis of the entire coding region
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland• Sequence analysis 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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