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Morphological aspects of females with BFLS due to de novo variants in PHF6. Note the characteristic facial appearance with sparse hair in infancy, long‐shaped ears, bitemporal narrowing, prominent supraorbital ridges, synophrys, and a short nose with bulbous nasal tip. Additionally, irregularly shaped or missing teeth, linear skin hyperpigmentation and finger and/or toe anomalies occur. [Colour figure can be viewed at wileyonlinelibrary.com]
