Literature DB >> 9452110

Evidence for somatic and germline mosaicism in CRASH syndrome.

L Vits1, D Chitayat, G Van Camp, J J Holden, E Fransen, P J Willems.   

Abstract

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Year:  1998        PMID： 9452110     DOI： 10.1002/humu.1380110189

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

1.  Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

Authors:  Nobuhiko Okamoto; Rolando Del Maestro; Rebeca Valero; Eugenia Monros; Pilar Poo; Yonehiro Kanemura; Mami Yamasaki
Journal:  J Hum Genet       Date:  2004-05-18       Impact factor: 3.172

2.  Three cases with L1 syndrome and two novel mutations in the L1CAM gene.

Authors:  Rosario Marín; Miriam Ley-Martos; Gema Gutiérrez; Felicidad Rodríguez-Sánchez; Diego Arroyo; Francisco Mora-López
Journal:  Eur J Pediatr       Date:  2015-05-07       Impact factor: 3.183

3.  Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.

Authors:  Raquel M Fernández; Rocío Núñez-Torres; Antonio González-Meneses; Guillermo Antiñolo; Salud Borrego
Journal:  BMC Med Genet       Date:  2010-09-22       Impact factor: 2.103

Review 4.  Genetic mosaics and the germ line lineage.

Authors:  Mark E Samuels; Jan M Friedman
Journal:  Genes (Basel)       Date:  2015-04-17       Impact factor: 4.096
  4 in total

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