In:
American Journal of Medical Genetics Part A, Wiley, Vol. 167, No. 8 ( 2015-08), p. 1916-1920
Kurzfassung:
We describe two patients with microdeletion 1p35.2, intrauterine growth retardation, small stature, hypermetropia, hearing impairment and developmental delay. Both patients have long, myopathic facies, with fine eyebrows, small mouths and micrognathia. We postulate a role for the histone deacetylase HDAC1 in the facial phenotype and suggest that deletion of KPNA6 may prevent transmission of the 1p35.2 deletion from affected girls to any offspring through impaired zygotic genome activation. © 2015 Wiley Periodicals, Inc.
Materialart:
Online-Ressource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v167.8
DOI:
10.1002/ajmg.a.37114
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2015
ZDB Id:
1493479-6
SSG:
12
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