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Sensenbrenner syndrome (OMIM #218330) is a … Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. Sensenbrenner in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible. Three genes responsible have been identified: intraflagellar transport (IFT)122 (WDR10), IFT43—a subunit of the IFT complex A machinery of primary cilia, and WDR35 (IFT121: TULP4) It is also known as Sensenbrenner–Dorst–Owens syndrome, Levin syndrome I and cranioectodermal dysplasia (CED)ome I and cranioectodermal dysplasia (CED)
, La displasia cranioectodermica è una displasia congenita molto rara, annoverata tra le ciliopatie, che ha per caratteristica principale l'alterazione di peli, capelli e denti.
, Die Kranioektodermale Dysplasie (CED) ist … Die Kranioektodermale Dysplasie (CED) ist eine sehr seltene angeborene Ektodermale Dysplasie mit den Hauptmerkmalen Zahn- und Haarfehlbildungen. Sie wird zu den Ziliopathien gerechnet. Synonyme sind: Levin Syndrom 1; Sensenbrenner-Syndrom; Sensenbrenner–Dorst–Owens Syndrom Die Erstbeschreibung stammt aus dem Jahre 1975 durch die US-amerikanischen Pädiater J. A. Sensenbrenner, J. P. Dorst, R. P. Owens. Eine weitere Beschreibung stammt aus dem Jahre 1877 von L. S. Levin und Mitarbeiter.ahre 1877 von L. S. Levin und Mitarbeiter.
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| rdfs:comment |
Die Kranioektodermale Dysplasie (CED) ist … Die Kranioektodermale Dysplasie (CED) ist eine sehr seltene angeborene Ektodermale Dysplasie mit den Hauptmerkmalen Zahn- und Haarfehlbildungen. Sie wird zu den Ziliopathien gerechnet. Synonyme sind: Levin Syndrom 1; Sensenbrenner-Syndrom; Sensenbrenner–Dorst–Owens Syndrom Die Erstbeschreibung stammt aus dem Jahre 1975 durch die US-amerikanischen Pädiater J. A. Sensenbrenner, J. P. Dorst, R. P. Owens. Eine weitere Beschreibung stammt aus dem Jahre 1877 von L. S. Levin und Mitarbeiter.ahre 1877 von L. S. Levin und Mitarbeiter.
, Sensenbrenner syndrome (OMIM #218330) is a … Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. Sensenbrenner in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible. Three genes responsible have been identified: intraflagellar transport (IFT)122 (WDR10), IFT43—a subunit of the IFT complex A machinery of primary cilia, and WDR35 (IFT121: TULP4) It is also known as Sensenbrenner–Dorst–Owens syndrome, Levin syndrome I and cranioectodermal dysplasia (CED)ome I and cranioectodermal dysplasia (CED)
, La displasia cranioectodermica è una displasia congenita molto rara, annoverata tra le ciliopatie, che ha per caratteristica principale l'alterazione di peli, capelli e denti.
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| rdfs:label |
Sensenbrenner syndrome
, Kranioektodermale Dysplasie
, Displasia cranioectodermica
|
