Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.

Por Shapira, S K, Neish, A S, Pober, B R
Publicado em 1992

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Por Jonsson, J J, Renieri, A, Gallagher, P G, Kashtan, C E, Cherniske, E M, Bruttini, M, Piccini, M, Vitelli, F, Ballabio, A, Pober, B R
Publicado em 1998

Findings From aCGH in Patients With Congenital Diaphragmatic Hernia (CDH): A Possible Locus for Fryns Syndrome

Por Kantarci, S., Casavant, D., Prada, C., Russell, M., Byrne, J., Haug, L. Wilkins, Jennings, R., Manning, S., Boyd, T.K., Fryns, J.P., Holmes, L.B., Donahoe, P.K., Lee, C., Kimonis, V., Pober, B.R.
Publicado em 2006

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

Por Longoni, M., Russell, M.K., High, F.A., Darvishi, K., Maalouf, F.I., Kashani, A., Tracy, A.A., Coletti, C.M., Loscertales, M., Lage, K., Ackerman, K.G., Woods, S.A., Ward-Melver, C., Andrews, D., Lee, C., Pober, B.R., Donahoe, P.K.
Publicado no Clin Genet (2014)