Cutis laxa with growth and developmental delay
Yükleniyor...
Dosyalar
Tarih
2001
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Clinical Pediatrics
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Congenital cutis laxa is a rare
inherited disorder of connective
tissue manifested by loose, hanging
skin. Cutis laxa may be inherited
(autosomal dominant, autosomal
recessive) or acquired. As
opposed to the recessive form of
cutis laxa, the dominant form has
been reported to be free of pulmonary
and other internal manifestation.'
Skin fibroblast cultures
from cutis laxa patients exhibit reduced
elastin. The genetic map
locus of autosomal dominant
form is 7q11.2. Tassabehji et a12
have described patients with autosomal
dominant cutis laxa and
mutations in elastin gene.
Açıklama
Clinical Pediatrics.
Anahtar Kelimeler
Kaynak
Clinical Pediatrics
WoS Q Değeri
Scopus Q Değeri
Cilt
0
Sayı
0
Künye
Karakurt C., Sipahi T, Ceylaner S., Senocak F, Karademir S., Becer M. (2001). Cutis laxa with growth and developmental delay. Clinical Pediatrics.
