Costello syndrome: Report and review
Identifieur interne : 00AE71 ( Main/Exploration ); précédent : 00AE70; suivant : 00AE72Costello syndrome: Report and review
Auteurs : Agnies M. Van Eeghen [Pays-Bas] ; Ietje Van Gelderen [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1999-01-15.
Abstract
We describe a 34‐year‐old woman with mental retardation, short stature, macrocephaly, a “coarse” face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart‐like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion. Am. J. Med. Genet. 82:187–193, 1999. © 1999 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19990115)82:2<187::AID-AJMG17>3.0.CO;2-2
Affiliations:
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Lacking papillomata, she had wart‐like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion. Am. J. Med. Genet. 82:187–193, 1999. © 1999 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement><orgName><li>Université d'Amsterdam</li></orgName></list><tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Van Eeghen, Agnies M" sort="Van Eeghen, Agnies M" uniqKey="Van Eeghen A" first="Agnies M." last="Van Eeghen">Agnies M. Van Eeghen</name></region><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><name sortKey="Van Gelderen, Ietje" sort="Van Gelderen, Ietje" uniqKey="Van Gelderen I" first="Ietje" last="Van Gelderen">Ietje Van Gelderen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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