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Cited by 13 publications
(7 citation statements)
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“…Begleitende Symptome,w ie kardiale undrenaleDefekte (chronisch-interstitielle Nephritis,c hronisch-sklerosierende Glomerulonephritis), Lippen-Kiefer-Gaumenspalten, Augenerkrankungen( früh einsetzende Myopie, Strabismus,P hotophobie, kongenitaleEktropie) und extradurale Spinalzysten (25,28,32,41,76,124,129) legenden pleiotropischenEffektdes Zielgens während der Entwicklung nahe (46,138).…”
Section: Lymphödem-distichiasis-syndromunclassified
“…Begleitende Symptome,w ie kardiale undrenaleDefekte (chronisch-interstitielle Nephritis,c hronisch-sklerosierende Glomerulonephritis), Lippen-Kiefer-Gaumenspalten, Augenerkrankungen( früh einsetzende Myopie, Strabismus,P hotophobie, kongenitaleEktropie) und extradurale Spinalzysten (25,28,32,41,76,124,129) legenden pleiotropischenEffektdes Zielgens während der Entwicklung nahe (46,138).…”
Section: Lymphödem-distichiasis-syndromunclassified
“…2 Lymphedema-distichiasis syndrome is a congenital lymphedema associated with the presence of aberrant eyelashes arising from the meibomian glands. 3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years.…”
mentioning
confidence: 99%
“…3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years. Distichiasis is usually present at birth and can cause corneal irritation or recurrent conjunctivitis 5 in up to 75% of patients; however, it was asymptomatic in this patient.…”
mentioning
confidence: 99%
“…2 Lymphedema-distichiasis syndrome is a congenital lymphedema associated with the presence of aberrant eyelashes arising from the meibomian glands. 3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years.…”
mentioning
confidence: 99%
“…3,4 It is a clinical diagnosis and can be associated with mutations in the FOXC2 gene; 3 inheritance is autosomal dominant with variable penetrance. 4 Bilateral lymphedema of the legs is usually present in the patient by age 30 years. Distichiasis is usually present at birth and can cause corneal irritation or recurrent conjunctivitis 5 in up to 75% of patients; however, it was asymptomatic in this patient.…”
mentioning
confidence: 99%