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Pubmed for Handhelds

PUBMED FOR HANDHELDS

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  • Title: Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.
    Author: Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin JC, Patrier S.
    Journal: Pediatr Dev Pathol; 2019; 22(2):146-151. PubMed ID: 30193563.
    Abstract:
    We report a male fetus with a 6.8 Mb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation. This deletion involves a minimal deleted region for cardiac malformation and the RAC1 gene, previously described in limb anomalies in mice. This fetus is the third human case with limb defects and RAC1 deletion.
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