Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2018.06.04
Abstract: AIM To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family. METHODS Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the… read more here.
Keywords: syndrome caused; caused homozygous; homozygous frameshift; col18a1 ... See more keywords
Autosomal recessive non-syndromic keratoconus: Homozygous frameshift variant in the candidate novel gene GALNT14.
Sign Up to like & getrecommendations! Published in 2019 at "Current molecular medicine"
DOI: 10.2174/1566524019666190730095630
Abstract: Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical. Despite the strong evidence of genetic contribution in KC, the etiology of KC is not understood in… read more here.
Keywords: gene galnt14; frameshift variant; homozygous frameshift; gene ... See more keywords
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2019.00245
Abstract: Background: Progressive pseudorheumatoid dysplasia (PPRD) inherited in an autosomal recessive fashion, is a disabling disease, characterized by platyspondyly, irregularities of the vertebral bodies, narrowing of the intervertebral discs and intraarticular spaces, widening of the epiphysis-metaphysis,… read more here.
Keywords: progressive pseudorheumatoid; novel homozygous; dysplasia pprd; homozygous frameshift ... See more keywords