Literature DB >> 10756342

Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism.

J M Saraiva1.   

Abstract

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome with moderate to severe mental retardation and no previously identified brain abnormalities. We describe the seventh case and note dysgenesis of the corpus callosum in this patient. Copyright 2000 Wiley-Liss, Inc.

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Mesh：

Year:  2000        PMID： 10756342     DOI： 10.1002/(sici)1096-8628(20000320)91:3<198::aid-ajmg8>3.0.co;2-4

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


  4 in total

1.  Craniovertebral junction stenosis in Lenz-Majewski syndrome.

Authors:  Koichi Mizuguchi; Osamu Miyazaki; Gen Nishimura; Akira Ishigro
Journal:  Pediatr Radiol       Date:  2015-03-17

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.  Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.

Authors:  Marian Seda; Emma Peskett; Charalambos Demetriou; Dale Bryant; Gudrun E Moore; Philip Stanier; Dagan Jenkins
Journal:  F1000Res       Date:  2019-03-11

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
  4 in total

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