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Characteristics of the patient carrying a mutation in exon 8 of AUTS2. A, Proband at the age of 8 y. These photographs show the highly arched eyebrows, broad nasal bridge, microcephaly, retrognathia, low‐set ears, narrow mouth, and short length of the fifth fingers but no skeletal anomaly. B, Sanger sequencing was performed, and a de novo mutation, c.1464_1467del ACTC (p.Tyr 488*), in AUTS2 was identified in the proband
