L

 

LOGIC sendromu (laryngoonychocutaneous sendrom)

Kalıtsal -AR

Konjunktivalarda sikatrisler

Amelogenesis imperfecta

Deri ülserleri

Deride granülomlar

Ses tellerinde granülomlar (garip ağlama sesi)

Tırnaklarda dökülmeler

Çocukluk çağı ölümleri

 

• Ainsworth JR, Shabbir G, Spencer AF, Cockburn F. Multisystem disorder of Punjabi children exhibiting spontaneous dermal and submucosal granulation tissue formation: LOGIC syndrome. Clinical Dysmorphology, 1: 3-14, 1992

• Phillips RJ, Atherton DJ, Gibbs ML, et al. Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect. Archives of Disease in Childhood, 70: 319-326, 1994

• McLean WHI, Irvine AD, Hamill KJ, et al. An unusual N-terminal deletion of the laminin alpha-3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Human Molecular Genetics, 12: 2395-2409, 2003

 

​