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Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy

✍ Scribed by Aldred, Micheala A. ;Aftimos, Salim ;Hall, Christine ;Waters, Katie S. ;Thakker, Rajesh V. ;Trembath, Richard C. ;Brueton, Louise


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
176 KB
Volume
113
Category
Article
ISSN
0148-7299

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De novo deletion of chromosome 20q13.33
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## BACKGROUND Tracheo-esophageal fistula (TEF) with/or without esophageal atresia (EA) is a common congenital malformation that is often accompanied by other anomalies. The causes of this condition are thought to be heterogeneous but are overall not well understood. ## CASE REPORT We identified a