Literature DB >> 894410

The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis.

M Robinow, A J Johanson, T H Smith.   

Abstract

A distinct syndrome is delineated on the basis of two previously reported and one newly described case. The syndrome combines multiple congenital anomalies with a progressive skeletal dysplasia-dysostosis, The gradual evolution of the skeletal disorder is demonstrated in the present patient. It will now be possible to diagnose this syndrome at birth.

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Year:  1977        PMID: 894410     DOI: 10.1016/s0022-3476(77)81311-5

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


  5 in total

1.  Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism.

Authors:  Mira Sohn; Tamas Balla
Journal:  J Rare Dis Res Treat       Date:  2016-12-29

2.  A Japanese patient with a mild Lenz-Majewski syndrome.

Authors:  Sumito Dateki; Tatsuro Kondoh; Gen Nishimura; Katsuaki Motomura; Koh-Ichiro Yoshiura; Akira Kinoshita; Hideo Kuniba; Yoshiyuki Koga; Hiroyuki Moriuchi
Journal:  J Hum Genet       Date:  2007-06-26       Impact factor: 3.172

3.  Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.

Authors:  Mira Sohn; Pavlina Ivanova; H Alex Brown; Daniel J Toth; Peter Varnai; Yeun Ju Kim; Tamas Balla
Journal:  Proc Natl Acad Sci U S A       Date:  2016-04-04       Impact factor: 11.205

4.  Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Authors:  Sérgio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlová; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; Gudrun E Moore
Journal:  Nat Genet       Date:  2013-11-17       Impact factor: 38.330

5.  Identification of Chloride Intracellular Channel Protein 3 as a Novel Gene Affecting Human Bone Formation.

Authors:  Andrea M Brum; Cindy S van der Leije; Marijke Schreuders-Koedam; Jeroen Verhoeven; Mark Janssen; Dick Hw Dekkers; Jeroen Aa Demmers; Marco Eijken; Jeroen van de Peppel; Johannes Ptm van Leeuwen; Bram Cj van der Eerden
Journal:  JBMR Plus       Date:  2017-04-28
  5 in total

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