Literature DB >> 12872821

Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome?

I Witters1, J P Fryns.   

Abstract

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Mesh：

Year:  2003        PMID： 12872821

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


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  3 in total

1.  In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

Authors:  D Wolff; S Endele; S Azzarello-Burri; J Hoyer; M Zweier; I Schanze; B Schmitt; A Rauch; A Reis; C Zweier
Journal:  Mol Syndromol       Date:  2012-03-16

2.  A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation.

Authors:  Ana Isabel Sánchez; Jorge Armando Rojas
Journal:  Case Rep Genet       Date:  2017-08-29

3.  New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

Authors:  Eric Chater-Diehl; Resham Ejaz; Cheryl Cytrynbaum; Michelle T Siu; Andrei Turinsky; Sanaa Choufani; Sarah J Goodman; Omar Abdul-Rahman; Melanie Bedford; Naghmeh Dorrani; Kendra Engleman; Josue Flores-Daboub; David Genevieve; Roberto Mendoza-Londono; Wendy Meschino; Laurence Perrin; Nicole Safina; Sharron Townshend; Stephen W Scherer; Evdokia Anagnostou; Amelie Piton; Matthew Deardorff; Michael Brudno; David Chitayat; Rosanna Weksberg
Journal:  BMC Med Genomics       Date:  2019-07-09       Impact factor: 3.063
  3 in total

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