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We report a novel heterozygous loss-of-function LEF1 variant in a 3-year-old girl and her mother, both diagnosed with hypohidrotic ectodermal dysplasia. The patients presented with sparse hair, dry skin and oligodontia but lacked limb or mammary malformations, expanding the clinical spectrum of LEF1-related disorders. The study provides new insights into the variability and management of ectodermal dysplasias related to LEF1.
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Hassan et al. (2024) studied this question.
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