Where I see patients (6)
Selected research
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A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk.
American journal of medical genetics. Part A
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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
medRxiv : the preprint server for health sciences
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Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3.
Journal of medical genetics
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