In:
American Journal of Medical Genetics Part A, Wiley, Vol. 170, No. 9 ( 2016-09), p. 2445-2448
Kurzfassung:
5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep‐set eyes, prominent columella, long philtrum, thin lips). © 2016 Wiley Periodicals, Inc.
Materialart:
Online-Ressource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v170.9
DOI:
10.1002/ajmg.a.37824
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2016
ZDB Id:
1493479-6
SSG:
12