Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report
Sign Up to like & getrecommendations! 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… read more here.
Keywords: using exome; syndrome using; identifying patients; plus syndrome ... See more keywords
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants
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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… read more here.
Keywords: family history; exome sequencing; genetics; using exome ... See more keywords