Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

بواسطة Kantaputra P.N., Klopocki E., Hennig B.P., Praphanphoj V., Le Caignec C., Isidor B., Kwee M.L., Shears D.J., Mundlos S.
منشور في 2014

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy

بواسطة Arndt A.-K., Schafer S., Drenckhahn J.-D., Sabeh M.K., Plovie E.R., Caliebe A., Klopocki E., Musso G., Werdich A.A., Kalwa H., Heinig M., Padera R.F., Wassilew K., Bluhm J., Harnack C., Martitz J., Barton P.J., Greutmann M., Berger F., Hubner N., Siebert R., Kramer H.-H., Cook S.A., Macrae C.A., Klaassen S.
منشور في 2019