Literature DB >> 31812316

Recurrent hypoplasia of corpus callosum as a prenatal phenotype of Xia-Gibbs syndrome caused by maternal germline mosaicism of an AHDC1 variant.

Ping He1, Yu Yang1, Li Zhen1, Dong-Zhi Li2.   

Abstract

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Year:  2019        PMID： 31812316     DOI： 10.1016/j.ejogrb.2019.11.031

Source DB:  PubMed          Journal:  Eur J Obstet Gynecol Reprod Biol        ISSN： 0301-2115            Impact factor:   2.435


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  5 in total

1.  Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.

Authors:  Michael M Khayat; He Li; Varuna Chander; Jianhong Hu; Adam W Hansen; Shoudong Li; Josh Traynelis; Hua Shen; George Weissenberger; Fabio Stossi; Hannah L Johnson; James R Lupski; Jennifer E Posey; Aniko Sabo; Qingchang Meng; David R Murdock; Michael Wangler; Richard A Gibbs
Journal:  Hum Mutat       Date:  2021-03-06       Impact factor: 4.878

Review 2.  Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).

Authors:  Gerrye Mubungu; Prince Makay; Bouchra Boujemla; Stephane Yanda; Jennifer E Posey; James R Lupski; Vincent Bours; Prosper Lukusa; Koenraad Devriendt; Aimé Lumaka
Journal:  Am J Med Genet A       Date:  2020-12-29       Impact factor: 2.578

Review 3.  Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.

Authors:  Ferruccio Romano; Mariateresa Falco; Gerarda Cappuccio; Nicola Brunetti-Pierri; Fortunato Lonardo; Annalaura Torella; Maria Cristina Digilio; Maria Lisa Dentici; Paolo Alfieri; Emanuele Agolini; Antonio Novelli; Livia Garavelli; Andrea Accogli; Pasquale Striano; Gioacchino Scarano; Vincenzo Nigro; Marcello Scala; Valeria Capra
Journal:  Birth Defects Res       Date:  2022-06-18       Impact factor: 2.661

4.  Focusing on Autism Spectrum Disorder in Xia-Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review.

Authors:  Stefania Della Vecchia; Roberta Milone; Romina Cagiano; Sara Calderoni; Elisa Santocchi; Rosa Pasquariello; Roberta Battini; Filippo Muratori
Journal:  Children (Basel)       Date:  2021-05-26

5.  AHDC1 missense mutations in Xia-Gibbs syndrome.

Authors:  Michael M Khayat; Jianhong Hu; Yunyun Jiang; He Li; Varuna Chander; Moez Dawood; Adam W Hansen; Shoudong Li; Jennifer Friedman; Laura Cross; Emilia K Bijlsma; Claudia A L Ruivenkamp; Francis H Sansbury; Jeffrey W Innis; Jessica Omark O'Shea; Qingchang Meng; Jill A Rosenfeld; Kirsty McWalter; Michael F Wangler; James R Lupski; Jennifer E Posey; David Murdock; Richard A Gibbs
Journal:  HGG Adv       Date:  2021-08-10
  5 in total

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