Associated Papers
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
Sun Y et al.
American Journal of Human Genetics, 2010
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