Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene
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DOI: 10.1002/pd.6736
Abstract: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome. read more here.
Keywords: fetus pathogenic; pathogenic variant; renal skeletal; skeletal anomalies ... See more keywords