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- W4316928131 abstract "Trichorhinophalangeal syndromes (TRPSs) are rare hereditary syndromes with autosomal dominant inheritance. Patients exhibit abnormalities including bulbous pear-shaped nose, broad columella, and long and flat philtrum, fine, sparse, brittle, slow-growing scalp hair, skeletal abnormalities, and short stature. Three families; age at subependymoma surgery, pathogenic TRPS1(NM_014112.5) variant, and subependymoma number are described. The authors declare that there is no conflict of interest. The peer review history for this article is available at https://publons.com/publon/10.1111/cge.14299. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions." @default.
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- W4316928131 date "2023-01-29" @default.
- W4316928131 modified "2023-09-26" @default.
- W4316928131 title "Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma" @default.
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- W4316928131 doi "https://doi.org/10.1111/cge.14299" @default.
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