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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

Fig. 1

Clinical characterization of the case. Frontal and lateral view of the proband at the age of 14 months. Note the frontal bossing, high anterior hair line, deep set eyes, small low-set backward-rotated ears, and thin upper lip. Other clinical findings are listed in the side table, where 3 out of 6 NH-CSS for SRS are in bold characters

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Molecular Cytogenetics

ISSN: 1755-8166