Literature DB >> 28475273

Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing.

Chumei Li1, Yongdong Wang1, Marta Szybowska1.   

Abstract

Entities:  

Year:  2017        PMID： 28475273     DOI： 10.1002/ajmg.a.38201

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.

Authors:  Minh-Tuan Huynh; Elise Boudry-Labis; Alfred Massard; Caroline Thuillier; Bruno Delobel; Bénédicte Duban-Bedu; Catherine Vincent-Delorme
Journal:  Eur J Hum Genet       Date:  2018-06-13       Impact factor: 4.246

2.  The autism spectrum phenotype in ADNP syndrome.

Authors:  Anne B Arnett; Candace L Rhoads; Kendra Hoekzema; Tychele N Turner; Jennifer Gerdts; Arianne S Wallace; Sandra Bedrosian-Sermone; Evan E Eichler; Raphael A Bernier
Journal:  Autism Res       Date:  2018-08-14       Impact factor: 5.216
  2 in total

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