HIGHLIGHTS
- What: This study was conducted according to the Declaration of Helsinki and the requisite permission was obtained from the institutional ethics committee.
- Who: Keiko Shimojima Yamamoto from the CEA Medical University, Izumi, Japan have published the Article: Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait, in the Journal: (JOURNAL) of 22/01/2024
SUMMARY
The patient exhibited severe developmental delay, hypotonia, and distinctive facial findings, including a triangular face with a wide nasal bridge, widely spaced eyes, a long philtrum, and a prominent jaw. The . . .
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