Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency

BMC Ophthalmology

Table 1 Gene detections of the patient and his parents

Gene detection	Gene	Exon	Genome coordinates	Nucleotide change	AA change	Hom/Hct/Hem	References
The patient	CBS	Exon8	chr21:44485352	c.697 T > G	p.Tyr233Asp	Hct	–
The patient	CBS	Exon6	chr21:44485755	c.502G > A	p.Val168Met	Hct	16
The parents	Mother of the patient					c.697 T > G
The parents	Father of the patient					c.502G > A

ISSN: 1471-2415