Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

Autor: Peter Krawitz, Georg Christoph Korenke, Peter Meinecke, Anca Mannhardt, Denise Horn

Publikováno v: American Journal of Medical Genetics Part A. 155:1917-1922

Hyperphosphatasia-mental retardation syndrome is a recently delineated disorder associated with a recognizable facial phenotype and brachytelephalangy. This autosomal recessive condition is caused by homozygous and compound heterozygous missense muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e838166cf3c05732755e61ae08d294c
https://doi.org/10.1002/ajmg.a.34102

Clinical and mutational spectrum of Mowat-Wilson Syndrome

Autor: Baruch Yerushalmi, Martin Zenker, Peter Meinecke, Ian D. Krantz, Anca Mannhardt, Paolo Emilio Bianchi, Nick Dennis, Susan Schelley, Cornelia Kraus, Frits A. Beemer, Christiane Zweier, Livija Medne, Christian Thiel, Maarit Peippo, Renata C. Gallagher, Helen V. Firth, I. Karen Temple, Trine Prescott, Susan Karstens, Livia Garavelli, Sergio Bernasconi, Sirpa Ala-Mello, Maria Kibaek, Helena Kääriäinen, Koen Devriendt, Boyan Dimitrov, Anita Rauch, Lotte Nylandsted Krogh, Augusta M. A. Lachmeijer, R. Brian Lowry, Andrea Bier, Yanick J. Crow, Heide Seidel, Solveig Schulz, Louanne Hudgins, Mohnish Suri, Marjo S. van der Knaap, Andreas Dufke, Olaf Rittinger, Gabriele Gillessen-Kaesbach, Jürgen Mücke, Patricia G. Wheeler

Publikováno v: Zweier, C, Thiel, C T, Dufke, A, Crow, Y J, Meinecke, P, Suri, M, Ala-Mello, S, Beemer, F, Bernasconi, S, Bianchi, P, Bier, A, Devriendt, K, Dimitrov, B, Firth, H, Gallagher, R C, Garavelli, L, Gillessen-Kaesbach, G, Hudgins, L, Kääriäinen, H, Karstens, S, Krantz, I, Mannhardt, A, Medne, L, Mücke, J, Kibaek, M, Krogh, L N, Peippo, M, Rittinger, O, Schulz, S, Schelley, S L, Temple, I K, Dennis, N R, Van Der Knaap, M S, Wheeler, P, Yerushalmi, B, Zenker, M, Seidel, H, Lachmeijer, A, Prescott, T, Kraus, C, Lowry, R B & Rauch, A 2005, ' Clinical and mutational spectrum of Mowat-Wilson Syndrome ', European Journal of Medical Genetics, vol. 48, no. 2, pp. 97-111 . https://doi.org/10.1016/j.ejmg.2005.01.003
European Journal of Medical Genetics, 48(2), 97-111. Elsevier Masson SAS

Mowat-Wilson Syndrome is a recently delineated mental retardation syndrome usually associated with multiple malformations and a recognizable facial phenotype caused by defects of the transcriptional repressor ZFHX1B. To address the question of clinic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aca08774ca8f959dff868e6ec5aaeb1c
https://research.vumc.nl/en/publications/eacfbdc5-e251-4764-b7c3-70dfd1ed478c