Clinical and genetic analysis of a rare syndrome associated with neoteny

Study ID Alternative Stable ID Type
EGAS00001002419 Other

Study Description

We describe a novel syndrome in six patients with extreme developmental delay and the defining characteristic of neoteny. In an effort to discover any genetic causes of this syndrome whole genome sequence (WGS) analysis of the patients and their families was performed on Complete Genomics’ nanoarray platform.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Complete Genomics 24

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