An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
November 2018
in “
The Italian Journal of Pediatrics/Italian journal of pediatrics
”
Studysummary This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
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