Type A2 Brachydactily — Report of a New Family-Reference-Cited by-同舟云学术

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Type A2 Brachydactily — Report of a New Family

Published:1977-04 Issue:2 Volume:26 Page:141-149
ISSN:1120-9623
Container-title:Acta geneticae medicae et gemellologiae
language:en
Short-container-title:Acta genet. med. gemellol.

Author:

Rasore-Quartino A.,Camera G.

Abstract

A new family with the A2 type brachydactily is described. It is the first one observed in Italy and the sixth of the world literature. Brachymesophalangy of index fingers and/or second toes is the typical osseous malformation which was present in 14 individuals from 4 generations. The defect is transmitted by an autosomal dominant gene with high penetrance and variable expressivity.

Publisher

Cambridge University Press (CUP)

Reference18 articles.

1. Kasuistischer Beitrag zu symmetrischen Missbildungen der Extremitäten;Ziegner;Muench. Med. Wochenschr,1903

2. Temtamy S. , 1966. Genetic factors in hand malformations. Ph. D. Thesis, Johns Hopkins University, Baltimore.

3. Farabee 1903, quoted by Haws D. V. and McKusick V.A. 1963.

4. Farabee's brachy-dactilous kindred revisited;Haws;Bull. Johns Hopkins Hosp.,1963

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mohr-Wriedt (A₂) Brachydactyly;Human Heredity;1980

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