heterotaxy

MMP21 mutations causing autosomal recessively inherited heterotaxy

Causing a developmental disorder By whole-exome and whole-genome sequencing evidence has been found that MMP21 gene mutations may cause an autosomal recessively inherited form of heterotaxy. Heterotaxy (or heterotaxia) is an abnormal positioning of the thoracic and/or abdominal organs reversing left/right with respect to normal. The incidence is approximately 1/15,000. Mutations in several other genes and all kinds of inheritance

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