Ehlers-Danlos syndrome, musculocontractural type

A form of Ehlers-Danlos syndrome (OMIM:601776) characterised by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement.
Molecular pathology
Defects in CHST14, which encodes a sulfotransferase that generates chondroitin sulfate, cause Ehlers-Danlos syndrome musculocontractural type

单词	ehlers-danlos syndrome, musculocontractural type
释义	Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type A form of Ehlers-Danlos syndrome (OMIM:601776) characterised by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. Molecular pathology Defects in CHST14, which encodes a sulfotransferase that generates chondroitin sulfate, cause Ehlers-Danlos syndrome musculocontractural type
随便看	nonreproductive sex non-repudiation nonrepudiation non repudiation of origin non repudiation of receipt non repudiation of submission non-requesting spouse non-requesting terminal non-required safety enhancing equipment non required time nonresemblance non-reserved lightpath non-reserved physical wavelength link nonreset nodus sinuatrialis non-resettable grand total non resetting counter nonresetting fire detectors non residence nonresidence nonresidency non-resident nonresident non resident alien non-resident alien nonresident alien