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Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity

  • Published:2008-06-28 Issue:5 Volume:38 Page:321-326
  • ISSN:0009-9163
  • Container-title:Clinical Genetics
  • language:en
  • Short-container-title:

Author:

Genuardi M.,Zollino M.,Bellussi A.,Fuhrmann W.,Neri G.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference11 articles.

1. Autosomal dominant inheritance of scalp defects with ectrodactyly;Bonafede;Am. J. Med. Genet.,1979

2. A new syndrome of triphalangeal thumbs and brachy-ectrodactyly;Carnevale;Clin. Genet.,1980

3. Trasmissione ereditaria di aplasia del perone e di ectrodattilia. Studio di una famiglia;Deragna;Quad. Clin. Ostet. Ginecol.,1966

4. Poly-, syn- and oligodactyly, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs - a new autosomal recessive syndrome;Fuhrmann;Eur. J. Pediatr.,1980

Cited by 11 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. Santos syndrome is caused by mutation in the WNT7A gene;Journal of Human Genetics;2017-08-31

2. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects;American Journal of Medical Genetics Part A;2008-12-15

3. Ectrodactyly with fibular aplasia: A separate entity?;European Journal of Medical Genetics;2008-09

4. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. F;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
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