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26 (0,109s) •

Result

First case of pachyonychia congenita in the Czech Republic

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by hypertrophic nail dystrophy, oral leukokeratosis, and painful palmoplantar keratoderma. It is associated with a mutation in one of...

FO - Dermatovenerologie

  • 2015
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  • Jx
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  • Link
Result

Steatocystoma multiplex: keratin 17-the key player?

Steatocystoma multiplex (SM) is a rare disorder of the pilosebaceous unit characterized by the eruption of numerous sebum-containing dermal cysts. Most cases are sporadic; how-ever, familial cases with autosomal dominant inheritance have also been de...

FO - Dermatovenerologie

  • 2012
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  • Jx
Result

Luxation coxae congenita - etiology, diagnosis, conservative treatment

Luxation coxae congenita - etiology, diagnosis, conservative treatment...

FI - Traumatologie a ortopedie

  • 2002
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  • Jx
Result

Epidermolysis Bullosa Congenita : Up-to-date View

Epidermolysis Bullosa Congenita : Up-to-date View...

FG - Pediatrie

  • 2005
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  • Jx
Result

Cutis marmorata teleangiectatica congenita

Cutis marmorata teleangiectatica congenita (CMTC) is a rare, usually benign, vascular malformation of unknown etiology. It is present at birth or shortly thereafter. Improvement with age is common. Persistent form has been described rarely. ...

FO - Dermatovenerologie

  • 2010
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  • Jx
Result

Syphilis congenita

The objective of the article is to present an up-to-date survey of the problem of congenital syphilis as obviously a certain number of cases will be encountered particularly in socially problematic subjects....

FO - Dermatovenerologie

  • 2001
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  • Jx
Result

Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene

Congenital myotonia is caused by mutations in the CLCN1 chloride channel gene. It can be inherited as either an autosomal dominant (Thomsen's myotonia) or a recessive (Becker's myotonia) trait.All the cases but one are sporadic, thus the majority of ...

EB - Genetika a molekulární biologie

  • 2011
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  • Jx
Result

Anaesthesia recommendations for Recessive myotonia congenita (Becker's disease)

Becker's disease is an autosomal recessive type of myotonia congenita, non prevalence of myotonia congenita is about 1:100,000 while in some countries (e.g. Norway). Laboratory diagnostics of myotonia congenita is base...

Anaesthesiology

  • 2019
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  • Jimp
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  • Link
Result

Assays to Study Consequences of Cytoplasmic Intermediate Filament Mutations: The Case of Epidermal Keratins

The discovery of the causative link between keratin mutations and a growing number of human diseases opened the way for a better understanding of the function of the whole intermediate filament families of cytoskeleton proteins. This chapter describe...

CE - Biochemie

  • 2016
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  • Jx
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  • Link
Result

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome, caused by genetic mutations that principally affect telomere biology. Approximately 35% of cases remain uncharacterised at the genetic level. To explore the geneti...

Human genetics

  • 2024
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  • Jimp
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  • Link
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