In:
American Journal of Medical Genetics Part A, Wiley, Vol. 152A, No. 8 ( 2010-08), p. 2057-2060
Abstract:
We report on a girl with Giuffrè–Tsukahara syndrome manifesting microcephaly, mental retardation, radio‐ulnar synostosis, short stature and scoliosis. Skewed X‐inactivation was not observed in our patient. We reviewed previous reports and provide evidence in support of X‐linked dominant inheritance of this condition. © 2010 Wiley‐Liss, Inc.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v152a:8
DOI:
10.1002/ajmg.a.33505
Language:
English
Publisher:
Wiley
Publication Date:
2010
detail.hit.zdb_id:
1493479-6
SSG:
12
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