Literature DB >> 909014

A female patient with "Aase syndrome".

M van Weel-Sipman, J J van de Kamp, J de Koning.   

Abstract

A girl with congenital hypoplastic anemia and triphalangeal thumbs (Aase syndrome) is described. This is the second report of these features is a female patient, making autosomal recessive inheritance a probable explanation.

Entities:  

Mesh：

Year:  1977        PMID： 909014     DOI： 10.1016/s0022-3476(77)81030-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  4 in total

1.  Congenital pure red cell aplasia in northern India.

Authors:  R K Agarwal; A Moudgil; H Pati; A Bagga; V P Choudhry; A K Saraya
Journal:  Indian J Pediatr       Date:  1985 Jan-Feb       Impact factor: 1.967

2.  The Aase syndrome in a female infant.

Authors:  M C Higginbottom; K L Jones; F H Kung; T K Koch; J L Boyer
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

Review 3.  Triphalangeal thumb.

Authors:  Q Qazi; E G Kassner
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

4.  The Aase syndrome. Case report and review of the literature.

Authors:  N Muis; F A Beemer; P van Dijken; J M Klep-de Pater
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.