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Fig. 1 | Italian Journal of Pediatrics

Fig. 1

From: Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome

Fig. 1

Pedigree analysis and images of the proband with Wiedemann-Rautenstrauch Syndrome. A The family tree shows the proband (II:1) from a non-consanguineous family. II:2 is the fetus from induced labor. B Facial photograph of the proband at 6 years of age. Physical features include macrocephaly, sparse scalp hair, prominent scalp veins, broad forehead, triangular face, pointed chin, thin upper lip vermilion, and abnormality of the ear. C Photograph of the leg bones of the proband. Physical features include abnormality of the skeletal system and loss of subcutaneous fat from the extremities. D Photograph of the abdomen of the proband. Physical features include lipodystrophy and extreme emaciation. E Photograph of the abortus. Physical features include abnormal head

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