Literature DB >> 3993676

Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder?

J Malouf, S Alam, H Kanj, A Mufarrij, V M Der Kaloustian.   

Abstract

We report on two sisters with ovarian dysgenesis and secondary hypergonadotropic hypogonadism and congestive cardiomyopathy. Their parents are first cousins. It is suggested that these are the main manifestations of a previously unreported autosomal-recessive syndrome.

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Year:  1985        PMID： 3993676     DOI： 10.1002/ajmg.1320200309

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy: two-case report and literature review.

Authors:  Dilek Benk Şilfeler; Atilla Karateke; Raziye Keskin Kurt; Özgür Aldemir; Alper Buğra Nacar; Ali Baloğlu
Journal:  Case Rep Obstet Gynecol       Date:  2014-12-03

Review 2.  Arab gene geography: From population diversities to personalized medical genomics.

Authors:  Ghazi O Tadmouri; Konduru S Sastry; Lotfi Chouchane
Journal:  Glob Cardiol Sci Pract       Date:  2014-12-31

3.  Myotonic Dystrophy-A Progeroid Disease?

Authors:  Peter Meinke; Stefan Hintze; Sarah Limmer; Benedikt Schoser
Journal:  Front Neurol       Date:  2018-07-25       Impact factor: 4.003

Review 4.  Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.

Authors:  Iria Roca; Ana Fernández-Marmiesse; Sofía Gouveia; Marta Segovia; María L Couce
Journal:  Int J Mol Sci       Date:  2018-05-27       Impact factor: 5.923
  4 in total

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