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Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

E. Bijlsma, A. Gijsbers, J. Schuurs-Hoeijmakers, A. Haeringen, D. F. Putte, B. Anderlid, J. Lundin, P. Lapunzina, L. Jurado, B. D. Chiaie, B. Loeys, B. Menten, A. Oostra, H. Verhelst, D. Amor, D. Bruno, A. Essen, R. Hordijk, B. Sikkema‐Raddatz, K. T. Verbruggen, M. Jongmans, R. Pfundt, H. Reeser, M. Breuning, C. Ruivenkamp

2009.3.1European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2009.03.006

tlooto सारांश

The assembled evidence indicates that recurrent 16p11.2 deletions are associated with variable clinical outcome, most likely arising from haploinsufficiency of one or more genes.

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साइटेशन फॉर्मेट

BIJLSMA, E., et al. Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals. European Journal of Medical Genetics, 2009, 52 2-3: 77–87.