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Hydrocephalus

  • TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies
    Jeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Jill A Rosenfeld, Wen-Hann Tan, Stephanie A Coury, Audrey C Woerner, Jessica Sebastian, Paul A Levy, Leah R Fleming, Lea Waffenschmidt, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Bimaljeet K Babra, Andrea Christ, Britta Eiberger, Selina Hölzel, Clara Vidic, Felix Häberlein, Nina Ishorst, Juan E Rodriguez-Gatica, Behnaz Pezeshkpoor, Patrick A Kupczyk, Olivier M Vanakker, Sara Loddo, Antonio Novelli, Maria L Dentici, Albert Becker, Holger Thiele, Jennifer E Posey, James R Lupski, Alina C Hilger, Heiko M Reutter, Waltraut M Merz, Gabriel C Dworschak, Benjamin Odermatt
    Journal of Medical Genetics Feb 2025, 62 (2) 126-137; DOI: 10.1136/jmg-2023-109799
  • DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
    Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn, Hannah Hugo, Eugen Widmeier, Martin Konrad, Velibor Tasic, Raffaella Morotti, Julia Baptista, Sian Ellard, Saquib Ali Lakhani, Friedhelm Hildebrandt, Mustafa K Khokha
    Journal of Medical Genetics Jul 2021, 58 (7) 453-464; DOI: 10.1136/jmedgenet-2019-106805
  • Mutation in MPDZ causes severe congenital hydrocephalus
    Mohammed S Al-Dosari, Mohammed Al-Owain, Maha Tulbah, Wesam Kurdi, Nouran Adly, Amal Al-Hemidan, Tariq A Masoodi, Buthainah Albash, Fowzan S Alkuraya
    Journal of Medical Genetics Jan 2013, 50 (1) 54-58; DOI: 10.1136/jmedgenet-2012-101294
  • Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
    Anais Drielsma, Chaim Jalas, Nicolas Simonis, Julie Désir, Natalia Simanovsky, Isabelle Pirson, Orly Elpeleg, Marc Abramowicz, Simon Edvardson
    Journal of Medical Genetics Nov 2012, 49 (11) 708-712; DOI: 10.1136/jmedgenet-2012-101190