Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
Abstract
Most cases with Kabuki syndrome (KS) were reported sporadically. Recently, a few familial cases of KS were reported. This report provides further evidence that the KS is inherited as a dominant trait with variable expressivity. The proposita is an 18-month-old girl with facial findings characteristic of Kabuki syndrome, prominent fingertip-pads, a midsagittal cleft of vertebral body D4, hypotonia, and psychomotor retardation. Her mother had a...
Paper Details
Title
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
Published Date
Jan 1, 2000
Volume
93
Issue
3
Pages
244 - 249
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