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Phenotypes of the patients. (a) Family pedigree shows three affected and three unaffected offspring from non‐consanguineous parents. (b) Facial appearance of patient 1 (II‐1). (c‐d) Malformations of hands and feet of patient 1 (II‐1). (e) Facial appearance of patient 3 (II‐5). (f) Varus right foot in patient 3 (II‐5).
