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Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and...
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This article is part of a Supplement: Volume 10 Supplement 2
This study was conducted to describe the clinical and genetic features of patients with late infantile metachromatic leukodystrophy.
Fucosidosis results from lack of α-L-fucosidase activity, with accumulation of fucose-linked substrates in the nervous system and viscera leading to progressive motor and mental deterioration, and death. The n...
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
This article is part of a Supplement: Volume 10 Supplement 1
Orphanet Journal of Rare Diseases