GAPO SYNDROME IN 3 RELATIVES IN A TURKISH KINDRED

SAYLI B., GUL D.

AMERICAN JOURNAL OF MEDICAL GENETICS, cilt.47, sa.3, ss.342-345, 1993 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 3
  • Basım Tarihi: 1993
  • Doi Numarası: 10.1002/ajmg.1320470309
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.342-345
  • Anahtar Kelimeler: GAPO SYNDROME, GROWTH RETARDATION, ALOPECIA, PSEUDOANODONTIA, AUTOSOMAL RECESSIVE INHERITANCE, GLAUCOMA, GROWTH-RETARDATION, PSEUDO-ANODONTIA, OPTIC ATROPHY, ALOPECIA
  • Ankara Üniversitesi Adresli: Hayır

Özet

GAPO syndrome in 2 sibs (brother and sister) and in a first cousin presented slight variations in the clinical picture. These include presence of some body hair, white eyelashes, deep furrows on sternum and back, disproportional body build, and minor skeletal abnormalities. It has been suggested that the athletic appearance of affected individuals is most likely due to the excessive amount of connective tissue. (C) 1993 Wiley-Liss, Inc.