Literature DB >> 712980

Aarskog syndrome. New findings and genetic analysis.

V Escobar, D D Weaver.   

Abstract

A patient had several unusual findings that, to our knowledge, have not previously been reported in the Aarskog syndrome (facio-digital-genital syndrome). On the basis of published pedigrees, the data strongly support an X-linked recessive mode of inheritance.

Entities:  

Mesh：

Year:  1978        PMID： 712980     DOI： 10.1001/jama.240.24.2638

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


  9 in total

Review 1.  Noonan syndrome.

Authors:  J E Allanson
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

2.  Aarskog syndrome with isolated growth hormone deficiency.

Authors:  M Kodama; S Fujimoto; T Namikawa; I Matsuda
Journal:  Eur J Pediatr       Date:  1981-02       Impact factor: 3.183

3.  Aarskog's syndrome.

Authors:  C Berry; J Cree; T Mann
Journal:  Arch Dis Child       Date:  1980-09       Impact factor: 3.791

4.  Aarskog's syndrome with Hirschsprung's disease, midgut malrotation, and dental anomalies.

Authors:  D D Hassinger; J J Mulvihill; J B Chandler
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

5.  New autosomal recessive faciodigitogenital syndrome.

Authors:  A S Teebi; K K Naguib; S Al-Awadi; Q A Al-Saleh
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

6.  Cerebrovascular disease associated with Aarskog-Scott syndrome.

Authors:  Michael L Diluna; Nduka M Amankulor; Michele H Johnson; Murat Gunel
Journal:  Neuroradiology       Date:  2007-02-10       Impact factor: 2.995

Review 7.  Interstitial Lung Disease in Rare Congenital Syndromes.

Authors:  Aleksandra Jezela-Stanek
Journal:  J Mother Child       Date:  2020-07-29

8.  Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.

Authors:  Yijia Liang; Honglin Wu; Xiumei He; Xiyu He
Journal:  Front Genet       Date:  2022-08-16       Impact factor: 4.772

9.  Anaesthetic considerations in Aarskog Scott Syndrome: A syndrome new to our understanding.

Authors:  Divya Gahlot; Munisha Aggarwal
Journal:  Saudi J Anaesth       Date:  2021-04-01
  9 in total

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