Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Autor: Merryn V. E. Macville, David Hunt, Richard Webster, Suzanna G.M. Frints, Alberto Fernández-Jaén, Shelagh Joss, Andrew G. L. Douglas, Margje Sinnema, Lesley M McGregor, Vera M. Kalscheuer, Abhijit Dixit, Paulien A. Terhal, Arthur Lee, Sébastien Jacquemont, Omar A. Abdul-Rahman, Peter Wieacker, Koen L.I. van Gassen, Norbert Utzig, Marcus Lee, Vanessa Suckow, Gunnar Houge, Danita Velasco, Cheryl Longman, Holly H. Zimmerman, Elizabeth C. Engle, Bryce A. Mendelsohn, Salwan Al-Nasiry, Suzanne M. Koudijs, Saskia M. Maas, Diana Baralle, Hiromi Hirata, Kees E. P. van Roozendaal, Servi J. C. Stevens, Raoul C.M. Hennekam, Roberto Colombo, Ulrike Kordaß, Gyri Aasland Gradek, Friederike Hennig

Publikováno v: Human Mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human Mutation
Human Mutation, 40(12), 2270-2285. Wiley
Human Mutation, 40(12), 2270. Wiley-Liss Inc.
Hum Mutat

Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. We present genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e587a6c9800551eea35560a0b6cc9e0a
https://hdl.handle.net/11268/10551

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D

Autor: Christine Petersen, Ulrike Kordaß, Sybille Lorenz, Kerstin Kutsche, Heide Seidel, Martin Zenker

Publikováno v: European Journal of Medical Genetics. 55:615-619

Costello syndrome (CS) is a rare congenital disorder characterized by severe failure to thrive, coarse facial appearance, cardiac and skin abnormalities, developmental delay, intellectual disability, and predisposition to malignancies. Heterozygous d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ec81bed5b7a2444d1e9e3f3a3e7f48f
https://doi.org/10.1016/j.ejmg.2012.07.007

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Autor: Ingo Kurth, Denise Horn, Outi Mäkitie, Eva Klopocki, Regina Célia Mingroni Netto, Anna Rajab, Charlotte W. Ockeloen, Silke Lohan, Hitesh Shah, Renata Soares Thiele de Aguiar, Maja Hempel, Matthew L. Warman, Aleksander Jamsheer, Rolf Habenicht, Karina Lezirovitz, Stylianos E. Antonarakis, Stefan Mundlos, Uppala Radhakrishna, Sandra C. Doelken, Koenraad Devriendt, Mohammed Naveed, Sigmar Stricker, Ulrike Kordaß

Publikováno v: Journal of Medical Genetics (London)
Journal of Medical Genetics, Vol. 49, No 2 (2012) pp. 119-25
Journal of Medical Genetics, 49, 119-25
Journal of Medical Genetics, 49, 2, pp. 119-25
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of medical genetics

BACKGROUND: Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the central rays of hands and/or feet. A distinct entity termed SHFLD presents wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3be2f2abbe7182bf4c4af1a5db89f80f
https://hdl.handle.net/2066/110979

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype

Autor: Ulrike, Kordaß, Carmen, Schröder, Miriam, Elbracht, Lukas, Soellner, Thomas, Eggermann

Publikováno v: American journal of medical genetics. Part A. (5)

Molecular alterations of the GLI2 gene in 2q14.2 are associated with features from the holoprosencephaly spectrum. However, the phenotype is extremely variable, ranging from unaffected mutation heterozygotes to isolated or combined pituitary hormone

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::800370d9934b3fec498eb7af653cd9aa
https://pubmed.ncbi.nlm.nih.gov/25820550