Figure 3 | Genetics in Medicine

Figure 3

From: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Figure 3

Recessive mutation in CSF1R in families 16DG0825 and 16DG0826. (a) Generalized increased bone density with bone sclerotic appearance suggesting osteopetrosis. (b) Dandy-Walker malformation comprising large posterior fossa, a high position of the tentorium cerebelli, hypoplastic vermis, and cerebellum with cystic dilatation of the fourth ventricle widely communicating with a posterior fossa cyst filling nearly the entire posterior fossa.

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