A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.
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DOI: 10.1097/mcd.0000000000000291
Abstract: The patient presented to Clinical Genetics at 10 months old with poor growth, motor delay and marked joint hypermobility. He was the first-born child of consanguineous Pakistani parents with no family history except one stillbirth… read more here.
Keywords: patient; novel homozygous; patient kim; cant1 patient ... See more keywords