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Mutations involving the transcription factor CBFA1 cause 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, Olsen BR. Mundlos S, et al. Among authors: mulliken jb. Cell. 1997 May 30;89(5):773-9. doi: 10.1016/s0092-8674(00)80260-3. Cell. 1997. PMID: 9182765 Free article.
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.
Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Reichenberger E, et al. Among authors: mulliken jb. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11326338 Free PMC article.
Molecular basis of vascular anomalies.
Vikkula M, Boon LM, Mulliken JB, Olsen BR. Vikkula M, et al. Among authors: mulliken jb. Trends Cardiovasc Med. 1998 Oct;8(7):281-92. doi: 10.1016/s1050-1738(98)00024-3. Trends Cardiovasc Med. 1998. PMID: 14987552
553 results