Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Autor: Powis, Z., Farwell Hagman, K. D., Mroske, C., Mcwalter, K., Cohen, J. S., Colombo, R., Serretti, A., Fatemi, A., David, K. L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C. M., Payne, K., Barbaro‐dieber, T., Gripp, K. W., Baker, L., Stamper, T., Aleck, K. A., Jordan, E. S.

Publikováno v: Clinical Genetics; Apr2018, Vol. 93 Issue 4, p752-761, 11p, 1 Chart

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Primrose syndrome: Characterization of the phenotype in42 patients

Autor: Erica H. Gerkes, Pietro Strisciuglio, Renata Lazari Sandoval, Todd Waters, A. Rossi, Renata Posmyk, Sheela Unger, Constance T. R. M. Stumpel, Hanne B Hove, Tina Barbaro-Dieber, Marco Tartaglia, Keri Ramsey, Petr E. Jira, Daniel R. Carvalho, Vinodh Narayanan, Leonie A. Menke, Katherine Lachlan, Michael J. Gambello, Viviana Cordeddu, Sandra Jansen, Marrit M. Hitzert, Peter D. Turnpenny, Blanca Gener, Daniela Melis, Raoul C.M. Hennekam, Damara Ortiz, Clare Turnbull, Kyra E. Stuurman, Eline Overwater, Alberto J. Espay

Publikováno v: Clinical Genetics, 97(6), 890-901. Wiley-Blackwell
Clinical Genetics
Clinical Genetics, 97(6), 890-901. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 97(6), 890-901. Wiley
Clinical genetics, 97(6), 890-901. Wiley-Blackwell
Melis, D, Carvalho, D, Barbaro-Dieber, T, Espay, A J, Gambello, M J, Gener, B, Gerkes, E, Hitzert, M M, Hove, H B, Jansen, S, Jira, P E, Lachlan, K, Menke, L A, Narayanan, V, Ortiz, D, Overwater, E, Posmyk, R, Ramsey, K, Rossi, A, Sandoval, R L, Stumpel, C, Stuurman, K E, Cordeddu, V, Turnpenny, P, Strisciuglio, P, Tartaglia, M, Unger, S, Waters, T, Turnbull, C & Hennekam, R C 2020, ' Primrose syndrome : Characterization of the phenotype in 42 patients ', Clinical Genetics, vol. 97, no. 6, pp. 890-901 . https://doi.org/10.1111/cge.13749
Clinical genetics, vol. 97, no. 6, pp. 890-901

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down‐slanting palpebral fissures), calcified external ears, sparse body hair and distal m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c704da4b2a461a7f3c66ca7f294abe
http://hdl.handle.net/11386/4745225