PMC7418427_01
Clinical features of the patient. a Patient at the age of 8 - visible short stature. b Hypoplastic and abnormally set thumbs
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PMC7418427_01_13039_2020_503_Fig1_HTML.jpg
Fig1
The examination of patient's phenotype at the genetic counseling centre identified short stature (Fig. 1a), microcephaly, low set ears, "cafe-au-lait" spots, and hypoplastic thumbs (Fig. 1b).