Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients

Tüuysüz B., Bariş S., Aksoy F., Madazli R., Üngür S., Sever L.

American Journal of Medical Genetics, Part A, cilt.149, sa.8, ss.1727-1733, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 149 Sayı: 8
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1002/ajmg.a.32962
  • Dergi Adı: American Journal of Medical Genetics, Part A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1727-1733
  • Anahtar Kelimeler: Jeune syndrome, asphyxiating thoracic dystrophy, clinical variability, pulmonary involvement, renal involvement, WIDE SPECTRUM, RENAL-FAILURE, DYSPLASIA, DISEASE, DISORDER
  • Marmara Üniversitesi Adresli: Evet