| Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family. | |
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MedLine Citation:
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PMID: 7473658 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome. The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands, and total absence of all toe nails. In addition, there is absence/hypoplasia of the distal phalanges of the hands and feet. Our family confirms this syndrome as a distinct entity with autosomal dominant inheritance. |
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Authors:
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N C Nevin; P S Thomas; D J Eedy; C Shepherd |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 32 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1995 Aug |
Date Detail:
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Created Date: 1995-12-07 Completed Date: 1995-12-07 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 638-41 Citation Subset: IM |
Affiliation:
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Regional Genetics Centre, Belfast City Hospital Trust, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Female Foot Deformities, Congenital / genetics*, radiography Hand Deformities, Congenital / genetics*, radiography Humans Infant Male Middle Aged Nail Diseases / genetics* Pedigree Syndrome |
| Comments/Corrections | |
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