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Brittle cornea syndrome 1
- ... EDSPD1 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED BRITTLE CORNEA SYNDROME 1; BCS1 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1 ...
- ... unknown. It has been diagnosed in fewer than 1,000 people worldwide, although it is likely that ... for making a protein called gap junction alpha-1 protein, which is commonly known as connexin 43. ...
