Cleidocranial dysplasia

Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, and Olsen BR (1997) Mutations involving the transcription factor CBFAl cause cleidocranial dysplasia. Cell 89 773-779. [Pg.202]

Much of the following discussion on A -expansion diseases is from excellent reviews by Brown and Brown (2004) and Messaed and Rouleau (2009). Nine diseases are currently known to be associated with an expansion of an A domain in the affected protein (Table 3). Synpolydactyly type 11 (SPD), cleidocranial dysplasia... [Pg.344]

Cleidocranial dysplasia (CCD) RUNX2 (CBFAl) Transcription factor (17 27)... [Pg.345]

CBAEl Haploinsufficiency Cleidocranial dysplasia J Clin Invesl, 2002. 109(4) p. 451-5. [Pg.1859]

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