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Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2039
Abstract: The EVEN‐plus syndrome (epiphyseal–vertebral–ear–nose dysplasia plus associated findings) is an extremely rare autosomal recessive inherited disease characterised by specific facial features and skeletal dysplasia. It has a prenatal onset due to defects in the HSPA9…
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Keywords:
using exome;
syndrome using;
identifying patients;
plus syndrome ... See more keywords
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Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.405
Abstract: When a family encounters the loss of a child early in life, extensive genetic testing of the affected neonate is sometimes not performed or not possible. However, the increasing availability of genomic sequencing may allow…
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Keywords:
family history;
exome sequencing;
genetics;
using exome ... See more keywords