Craniotubular dysplasia, Ikegawa type

Definition:

Craniotubular dysplasia, Ikegawa type (CTDI) is a sclerosing bone disorder characterized by childhood-onset short-limbed short stature and head deformities. It has been reported that deficiency of TMEM53 causes CTDI by dysregulation of BMP-SMAD signaling.

References:

[1]. Long Guo, et al. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nat Commun. 2021 Apr 6;12(1):2046. [Content Brief]

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