Ectodermal abnormalities in Kabuki syndrome.
Title | Ectodermal abnormalities in Kabuki syndrome. |
Publication Type | Journal Article |
Year of Publication | 1997 |
Authors | Lerone M, Priolo M, Naselli A, Vignolo M, Romeo G, Silengo MC |
Journal | American journal of medical genetics |
Volume | 73 |
Issue | 3 |
Pagination | 263-6 |
Date Published | 1997 Dec 19 |
Abstract | We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisorsi, hypodontia, hypoplastic nails, and brittle hair. Abnormal teeth are common in NKS and support a hypothesis of autosomal dominant inheritance of the syndrome [Halal et al., 1989; Silengo et al., 1996]. Hair abnormalities have never been investigated in NKS. The ectodermali involvement in NKS could represent an important clue for the understanding of the pathogenesisi of this syndrome. |
Alternate Journal | Am. J. Med. Genet. |
Citation Key | 9415681 |
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