Congetial cutis laxa syndrome: type II autosomal recessive inheritance

Tuysuz, B; Arapoglu, M; Ilikkan, B; Demirkesen, CÜYAN; Perk, Y

Congetial cutis laxa syndrome: type II autosomal recessive inheritance

Tuysuz B., Arapoglu M., Ilikkan B., Demirkesen C., Perk Y.

TURKISH JOURNAL OF PEDIATRICS, cilt.45, sa.3, ss.265-268, 2003 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 45 Sayı: 3
Basım Tarihi: 2003
Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.265-268
Anahtar Kelimeler: cutis laxa, type II recessive form, DELAYED DEVELOPMENT, LIGAMENTOUS LAXITY, LYSYL OXIDASE, COLLAGEN, GENE
Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type H autosomal recessive disease.