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Article

Tethered cord syndrome in KBG syndrome.

American journal of medical genetics. Part A - 1 May 2023

Hills Sonia, Pugacheva Alisa, Weltin Patricia, Maughan Annette, Morton Sarah U, Feldman Henry A, Klinge Petra M, Agrawal Pankaj B

Abstract excerpt

Tethered cord syndrome (TCS) is characterized by leg pain and weakness, bladder and bowel dysfunction, orthopedic malformations such as scoliosis, and motor deficits caused by the fixation of the spinal cord to surrounding tissues. TCS is surgically treatable and often found in conjunction with other syndromic conditions. KBG syndrome is caused by variants in the ANKRD11 gene and is characterized by short...

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PMID: 36722669
DOI: 10.1002/ajmg.a.63128

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