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Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report

✍ Scribed by Md A Mohd Fadley; Azli Ismail; Thong Meow Keong; Narazah Mohd Yusoff; Zubaidah Zakaria


Book ID
115024113
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
568 KB
Volume
6
Category
Article
ISSN
1752-1947

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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