Literature DB >> 32222014

A second case of Okamoto syndrome caused by HNRNPK mutation.

Isabelle Maystadt1, Marie Deprez1, Stéphanie Moortgat1, Valérie Benoît1, Deniz Karadurmus1.   

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Year:  2020        PMID: 32222014     DOI: 10.1002/ajmg.a.61568

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  2 in total

1.  Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Authors:  Madelyn A Gillentine; Tianyun Wang; Kendra Hoekzema; Jill Rosenfeld; Pengfei Liu; Hui Guo; Chang N Kim; Bert B A De Vries; Lisenka E L M Vissers; Magnus Nordenskjold; Malin Kvarnung; Anna Lindstrand; Ann Nordgren; Jozef Gecz; Maria Iascone; Anna Cereda; Agnese Scatigno; Silvia Maitz; Ginevra Zanni; Enrico Bertini; Christiane Zweier; Sarah Schuhmann; Antje Wiesener; Micah Pepper; Heena Panjwani; Erin Torti; Farida Abid; Irina Anselm; Siddharth Srivastava; Paldeep Atwal; Carlos A Bacino; Gifty Bhat; Katherine Cobian; Lynne M Bird; Jennifer Friedman; Meredith S Wright; Bert Callewaert; Florence Petit; Sophie Mathieu; Alexandra Afenjar; Celenie K Christensen; Kerry M White; Orly Elpeleg; Itai Berger; Edward J Espineli; Christina Fagerberg; Charlotte Brasch-Andersen; Lars Kjærsgaard Hansen; Timothy Feyma; Susan Hughes; Isabelle Thiffault; Bonnie Sullivan; Shuang Yan; Kory Keller; Boris Keren; Cyril Mignot; Frank Kooy; Marije Meuwissen; Alice Basinger; Mary Kukolich; Meredith Philips; Lucia Ortega; Margaret Drummond-Borg; Mathilde Lauridsen; Kristina Sorensen; Anna Lehman; Elena Lopez-Rangel; Paul Levy; Davor Lessel; Timothy Lotze; Suneeta Madan-Khetarpal; Jessica Sebastian; Jodie Vento; Divya Vats; L Manace Benman; Shane Mckee; Ghayda M Mirzaa; Candace Muss; John Pappas; Hilde Peeters; Corrado Romano; Maurizio Elia; Ornella Galesi; Marleen E H Simon; Koen L I van Gassen; Kara Simpson; Robert Stratton; Sabeen Syed; Julien Thevenon; Irene Valenzuela Palafoll; Antonio Vitobello; Marie Bournez; Laurence Faivre; Kun Xia; Rachel K Earl; Tomasz Nowakowski; Raphael A Bernier; Evan E Eichler
Journal:  Genome Med       Date:  2021-04-19       Impact factor: 11.117

2.  Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome.

Authors:  Xin Pan; Sihan Liu; Li Liu; Xu Zhang; Hong Yao; Bo Tan
Journal:  Front Genet       Date:  2022-03-29       Impact factor: 4.599

  2 in total

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