Literature DB >> 5249155

Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case.

R L Braham.   

Abstract

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Year:  1969        PMID： 5249155     DOI： 10.1016/0030-4220(69)90026-7

Source DB:  PubMed          Journal:  Oral Surg Oral Med Oral Pathol        ISSN： 0030-4220


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  3 in total

1.  [Bright ocular background with profound cutis laxa and large fontanelles].

Authors:  I Marjanovic; B Seitz; B Käsmann-Kellner
Journal:  Ophthalmologe       Date:  2015-01       Impact factor: 1.059

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.  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
  3 in total

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