Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

Volume: 176, Issue: 9, Pages: 1991 - 1995
Published: Aug 8, 2018
Abstract
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11 , one of the ankyrin repeat‐containing cofactors. After the advent of whole exome sequencing, the number of clinical reports with KBG diagnosis has increased, leading to a revision of the phenotypic spectrum associated with this syndrome. Here, we report a female child showing clinical features of...
Paper Details
Title
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
Published Date
Aug 8, 2018
Volume
176
Issue
9
Pages
1991 - 1995
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