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Keywords: Radial ray defects
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Journal Articles
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature
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Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (6): 509–515.
Published Online: 04 August 2023
... gene was recently associated with FA complementation group W, and only 1 patient is reported in the literature so far. Case Presentation: Here, we report the second patient, a 10-year-old male, who has failure to thrive, central nervous system abnormalities, bilateral radial ray defects, urogenital...