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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Schrauwen, Isabelle; Valgaeren, Hanne; Tomas-Roca, Laura; Sommen, Manou; Altunoglu, Umut; Wesdorp, Mieke; Beyens, Matthias; Fransen, Erik; Nasir, Abdul; Vandeweyer, Geert; Schepers, Anne; Rahmoun, Malika; van Beusekom, Ellen; Huentelman, Matt J.; Offeciers, Erwin; Dhooghe, Ingeborg; Huber, Alex; Van de Heyning, Paul; Zanetti, Diego; De Leenheer, Els M. R.; De Leenheer, Els M. R.


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{
  "DOI": "10.1038/s41436-018-0300-5", 
  "abstract": "Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.", 
  "author": [
    {
      "family": "Schrauwen", 
      "given": " Isabelle"
    }, 
    {
      "family": "Valgaeren", 
      "given": " Hanne"
    }, 
    {
      "family": "Tomas-Roca", 
      "given": " Laura"
    }, 
    {
      "family": "Sommen", 
      "given": " Manou"
    }, 
    {
      "family": "Altunoglu", 
      "given": " Umut"
    }, 
    {
      "family": "Wesdorp", 
      "given": " Mieke"
    }, 
    {
      "family": "Beyens", 
      "given": " Matthias"
    }, 
    {
      "family": "Fransen", 
      "given": " Erik"
    }, 
    {
      "family": "Nasir", 
      "given": " Abdul"
    }, 
    {
      "family": "Vandeweyer", 
      "given": " Geert"
    }, 
    {
      "family": "Schepers", 
      "given": " Anne"
    }, 
    {
      "family": "Rahmoun", 
      "given": " Malika"
    }, 
    {
      "family": "van Beusekom", 
      "given": " Ellen"
    }, 
    {
      "family": "Huentelman", 
      "given": " Matt J."
    }, 
    {
      "family": "Offeciers", 
      "given": " Erwin"
    }, 
    {
      "family": "Dhooghe", 
      "given": " Ingeborg"
    }, 
    {
      "family": "Huber", 
      "given": " Alex"
    }, 
    {
      "family": "Van de Heyning", 
      "given": " Paul"
    }, 
    {
      "family": "Zanetti", 
      "given": " Diego"
    }, 
    {
      "family": "De Leenheer", 
      "given": " Els M. R."
    }, 
    {
      "family": "De Leenheer", 
      "given": " Els M. R."
    }
  ], 
  "container_title": "GENETICS IN MEDICINE", 
  "id": "70275", 
  "issue": "5", 
  "issued": {
    "date-parts": [
      [
        2019, 
        1, 
        1
      ]
    ]
  }, 
  "page": "1199-1208", 
  "title": "Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis", 
  "type": "article-journal", 
  "volume": "21"
}
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