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Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia.
Clin Genet. 1983 Jul; 24(1):58-68.CG

Abstract

A Caucasian family was verified to have 11 affected persons (7 women and 4 men) in four generations. A mild and variable clinical picture (dry, thin skin, dental involvement, and nail alteration) was verified in all the affected, with the exception of the propositus who has a more severe clinical picture, besides also having trichodysplasia. The segregation ratio (11 normal: 10 affected) verified in the offspring of the affected and other criteria permit the hypothesis of an autosomal dominant gene. This pure dysplasia was compared to 27 other conditions belonging to the tricho-odonto-onychial subgroup and proved to be different from all the others.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6616948

Citation

Pinheiro, M, and N Freire-Maia. "Dermoodontodysplasia: an Eleven-member, Four Generation Pedigree With an Apparently Hitherto Undescribed Pure Ectodermal Dysplasia." Clinical Genetics, vol. 24, no. 1, 1983, pp. 58-68.
Pinheiro M, Freire-Maia N. Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia. Clin Genet. 1983;24(1):58-68.
Pinheiro, M., & Freire-Maia, N. (1983). Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia. Clinical Genetics, 24(1), 58-68.
Pinheiro M, Freire-Maia N. Dermoodontodysplasia: an Eleven-member, Four Generation Pedigree With an Apparently Hitherto Undescribed Pure Ectodermal Dysplasia. Clin Genet. 1983;24(1):58-68. PubMed PMID: 6616948.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia. AU - Pinheiro,M, AU - Freire-Maia,N, PY - 1983/7/1/pubmed PY - 1983/7/1/medline PY - 1983/7/1/entrez SP - 58 EP - 68 JF - Clinical genetics JO - Clin. Genet. VL - 24 IS - 1 N2 - A Caucasian family was verified to have 11 affected persons (7 women and 4 men) in four generations. A mild and variable clinical picture (dry, thin skin, dental involvement, and nail alteration) was verified in all the affected, with the exception of the propositus who has a more severe clinical picture, besides also having trichodysplasia. The segregation ratio (11 normal: 10 affected) verified in the offspring of the affected and other criteria permit the hypothesis of an autosomal dominant gene. This pure dysplasia was compared to 27 other conditions belonging to the tricho-odonto-onychial subgroup and proved to be different from all the others. SN - 0009-9163 UR - https://wwww.unboundmedicine.com/medline/citation/6616948/Dermoodontodysplasia:_an_eleven_member_four_generation_pedigree_with_an_apparently_hitherto_undescribed_pure_ectodermal_dysplasia_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1983&volume=24&issue=1&spage=58 DB - PRIME DP - Unbound Medicine ER -