Literature DB >> 20190637

Mandibular hypoplasia in fibrodysplasia ossificans progressiva causing obstructive sleep apnoea with pulmonary hypertension.

Daniel R Carvalho1, Giulio C Pinnola, Danielle R A Ferreira, Paulo S S Beraldo, Claudia V C Coelho, Luciano Farage, Reinaldo I Takata, Carlos E Speck-Martins.   

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Year:  2010        PMID: 20190637     DOI: 10.1097/MCD.0b013e32833734f9

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


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  2 in total

1.  A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.

Authors:  Mohammad Al-Haggar; Agnieszka Madej-Pilarczyk; Lukasz Kozlowski; Janusz M Bujnicki; Sohier Yahia; Dina Abdel-Hadi; Amany Shams; Nermin Ahmad; Sahar Hamed; Monika Puzianowska-Kuznicka
Journal:  Eur J Hum Genet       Date:  2012-05-02       Impact factor: 4.246

Review 2.  Limitations of Jaw Movement in Fibrodysplasia Ossificans Progressiva: A Review.

Authors:  Ton Schoenmaker; Amine Dahou Bouchankouk; Semih Özkan; Marjolijn Gilijamse; Elinor Bouvy-Berends; Coen Netelenbos; Frank Lobbezoo; Elisabeth Marelise W Eekhoff; Teun J de Vries
Journal:  Front Med (Lausanne)       Date:  2022-03-22
  2 in total

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