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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family

Fig. 1

a Pedigree of a Chinese family affected with DC. The arrow indicates the proband with typical clinical symptoms. His heterozygous, consanguineous parents and sister had no clinical symptoms. b The affected proband with DC showed the typical signs of nail dysplasia and oral leukoplakia. c Bone marrow biopsy of the proband revealed severe hypocellularity (HE stain, × 400)

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BMC Medical Genetics

ISSN: 1471-2350

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