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Fig. 1 | Hereditas

Fig. 1

From: Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Fig. 1

Clinical characteristics of the proband. (a) Pedigree of the family. III:3 represents the proband, whose older brother (III:2) has decreased. (b) The clinical features include a rounded doll’s face, fatty cheeks and protuberant abdomen. (c) X-ray films of the whole body of the patient. White arrows mark areas with obvious osteoporosis. (d) Focused view of X-ray film on the hand of the proband, where the wrist marked by white arrows has obvious osteoporosis. (e) Image of type-B ultrasonic on the proband shows severe liver enlargement. Blue color: The blood flow away from the detector of ultrasound B-mode scanner; Red color: The blood flow to the detector of ultrasound B-mode scanner

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Hereditas

ISSN: 1601-5223

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