Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
Abstract Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes. Case presentation This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, mic...
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| Aineistotyyppi: | Kirja |
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BMC,
2022-06-01T00:00:00Z.
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A1234.567 |
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