In:
American Journal of Medical Genetics Part A, Wiley, Vol. 170, No. 9 ( 2016-09), p. 2445-2448
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v170.9
DOI:
10.1002/ajmg.a.37824
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
1493479-6
SSG:
12