A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
Background: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal recessive and skeletal disorder included wide spectrum of clinical abnormalities such as fetal growth restriction, disproportionate face, microcephaly, post-natal growth retardation, adult height under 10...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2020-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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