In:
American Journal of Medical Genetics, Wiley, Vol. 26, No. 1 ( 1987-01), p. 133-138
Abstract:
We report on a second patient with Johanson‐Blizzard syndrome with full autopsy. The findings are similar to those of the one other available case, but gross or fine CNS maldevelopment was not present; although small by weight, the brain showed no cytoarchitectural disturbance. Normal intellecutal development does occur in this syndrome and may relate to the variable effects of the deleterious gene on the developing CNS.
Type of Medium:
Online Resource
ISSN:
0148-7299
,
1096-8628
DOI:
10.1002/ajmg.1320260120
Language:
English
Publisher:
Wiley
Publication Date:
1987
detail.hit.zdb_id:
2143866-3
detail.hit.zdb_id:
2143867-5
detail.hit.zdb_id:
1493479-6
detail.hit.zdb_id:
2205916-7
SSG:
12
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