Associated Papers
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.
van Ommeren B et al.
American Journal of Medical Genetics. Part A, 2025
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Guo L et al.
Nature Communications, 2021
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