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microstomia/carbohydrate

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NakalaMajaribio ya klinikiHati miliki
2 matokeo

Dental care management in a child with recessive dystrophic epidermolysis bullosa.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Epidermolysis bullosa (EB) is a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes in which vesiculobullous lesions occur in response to trauma, heat or no apparent cause. The recessive form of EB presents the greatest oral alterations

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho
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