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A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype

✍ Scribed by Shailly Jain; Ping Yang; S.A. Farrell


Book ID
116433242
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
212 KB
Volume
53
Category
Article
ISSN
1769-7212

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## Abstract In 2000, Teebi reported on a 4‐year‐old boy with a distinctive pattern of malformation, which he termed the β€œNablus mask‐like facial syndrome” (OMIM# 608156). Characterization of this syndrome has been difficult because of the paucity of patients described in the medical literature and