We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 3

1.
Figure 1

Figure 1. From: The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

Pedigree of the family studied. The four surviving affected individuals were available for genetic analysis. The autosomal recessive pattern of inheritance because of a likely founder effect can be observed.

Jenny Zolotushko, et al. Eur J Hum Genet. 2011 September;19(9):942-946.
2.
Figure 2

Figure 2. From: The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

(af) MRI images of two affected individuals, V7 (a, T1 sagital; c, T2 axial; e, T2IR coronal) and IV5 (b, T2 sagital; d, T2flair axial; f, T1 axial), at 1.5 and 2 years, respectively. Note the very thin corpus callosum, generalized brain atrophy and enlarged ventricles.

Jenny Zolotushko, et al. Eur J Hum Genet. 2011 September;19(9):942-946.
3.
Figure 3

Figure 3. From: The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

The c.307C>T mutation in exon 2 of DHCR24. Sequence analysis is shown for an affected individual (a), an obligatory carrier (b) and an unaffected individual (c). (d) ClustalW sequence alignment of human DHCR24 to orthologs. The c.307C>T mutation (boxed) is in a residue that is highly conserved throughout evolution. Conserved residues are indicated with asterisks.

Jenny Zolotushko, et al. Eur J Hum Genet. 2011 September;19(9):942-946.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Write to the Help Desk