Marshall syndrome

Definition:

Marshall syndrome is a rare autosomal dominant skeletal dysplasia caused by mutations in COL11A1, which encodes collagen type XI alpha-1 chain. It is characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit.

References:

[1]. A J Griffith, et al. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet. 1998 Apr;62(4):816-23. [Content Brief]

[2]. O Khalifa, et al. Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings. Am J Med Genet A. 2014 Oct;164A(10):2601-6. [Content Brief]

[3]. S Annunen, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999 Oct;65(4):974-83. [Content Brief]

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