Literature DB >> 26862943

Temple syndrome misdiagnosed as Silver-Russell syndrome.

Ho-Ming Luk1.   

Abstract

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Mesh：

Year:  2016        PMID： 26862943     DOI： 10.1097/MCD.0000000000000114

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

1.  New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.

Authors:  Jasmin Beygo; Alma Küchler; Gabriele Gillessen-Kaesbach; Beate Albrecht; Jonas Eckle; Thomas Eggermann; Alexandra Gellhaus; Deniz Kanber; Ulrike Kordaß; Hermann-Josef Lüdecke; Sabine Purmann; Eva Rossier; Johannes van de Nes; Ilse M van der Werf; Maren Wenzel; Dagmar Wieczorek; Bernhard Horsthemke; Karin Buiting
Journal:  Eur J Hum Genet       Date:  2017-06-21       Impact factor: 4.246

2.  Syndromic Disorders Caused by Disturbed Human Imprinting

Authors:  Diana Carli; Evelise Riberi; Giovanni Battista Ferrero; Alessandro Mussa
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-04-10

3.  Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion.

Authors:  Yerai Vado; Arrate Pereda; Isabel Llano-Rivas; Nerea Gorria-Redondo; Ignacio Díez; Guiomar Perez de Nanclares
Journal:  Genes (Basel)       Date:  2020-12-05       Impact factor: 4.096
  3 in total

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