Publications by authors named "S Holtrop"
Article Synopsis
- * The report describes a unique case of an infant with KS who also has holoprosencephaly (a brain anomaly) and truncus arteriosus (a rare heart defect), highlighting these conditions are not typically associated with KS.
- * Whole exome sequencing identified a specific genetic mutation in the patient, underscoring the importance of advanced genetic testing to broaden our understanding of KS and aid in accurate diagnoses of congenital anomalies.
Article Synopsis
- * A clinical trial involving 354 infants evaluated the effect of early versus delayed WGS results on clinical management within 60 days, looking at outcomes like changes in treatment and hospitalization duration.
- * Results showed that infants who received WGS results earlier were twice as likely to have their management changed compared to those receiving results later, indicating the potential benefits of timely genetic testing in acute care settings.
White-Sutton syndrome (WHSUS) is a recently-identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50 individuals have been reported worldwide, however phenotypic characterization and data regarding the natural history are still incomplete. Here we report the clinical features of 22 individuals with 21 unique loss of function POGZ variants.
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