Growth charts in Kabuki syndrome 1
Volume: 182, Issue: 3, Pages: 446 - 453
Published: Dec 26, 2019
Abstract
Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A . KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for size prognosis and investigate the impact of growth hormone therapy on adult height. Growth parameters...
Paper Details
Title
Growth charts in Kabuki syndrome 1
Published Date
Dec 26, 2019
Volume
182
Issue
3
Pages
446 - 453
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