Article
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.
American journal of medical genetics. Part A - 1 Feb 2025
van Ommeren Babeth, Hoekstra Maud, van Gassen Koen, van Jaarsveld Richard, van Haaften Gijs, Mathijssen Irene, Dammers Ruben, van Veelen Marie-Lise, Baars Rolanda, Giltay Jacques C
Abstract excerpt
Craniotubular Dysplasia Ikegawa type is a sclerosing bone disorder recently identified in five patients from four independent Indian families. It is caused by homozygous or compound heterozygous mutations in TMEM53. Deficient TMEM53 leads to overactive BMP signaling which promotes bone formation. Here, we present another three siblings with intronic mutations in TMEM53, identified by exome sequencing, from a...
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