Literature DB >> 33464633

Atypical aplasia cutis in association with Xia Gibbs syndrome.

Carter Ellis1, Gurpur Shashidhar Pai2, Lara Wine Lee3.   

Abstract

Xia Gibbs syndrome is a genetic disorder first defined in 2014 characterized by hypotonia, intellectual disability, global developmental delay, and dysmorphic facial features. While many additional features may be present, there are few reports of dermatologic findings. We report a case of atypical aplasia cutis in a female infant who was found to have Xia Gibbs syndrome. This case highlights consideration of cutaneous manifestations of Xia Gibbs syndrome which may aid in diagnosis.
© 2021 Wiley Periodicals LLC.

Entities:  

Keywords:  zzm321990AHDC1zzm321990; AT-Hook DNA Binding Motif Containing 1 gene; Xia Gibbs; aplasia cutis; cutis aplasia

Mesh:

Year:  2021        PMID: 33464633     DOI: 10.1111/pde.14515

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  3 in total

1.  Gibbin mesodermal regulation patterns epithelial development.

Authors:  Ann Collier; Angela Liu; Jessica Torkelson; Jillian Pattison; Sadhana Gaddam; Hanson Zhen; Tiffany Patel; Kelly McCarthy; Hana Ghanim; Anthony E Oro
Journal:  Nature       Date:  2022-05-18       Impact factor: 69.504

2.  Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report.

Authors:  Shuang-Zhu Lin; Hong-Yan Xie; Yan-Lai Qu; Wen Gao; Wan-Qi Wang; Jia-Yi Li; Xiao-Chun Feng; Chun-Quan Jin
Journal:  World J Clin Cases       Date:  2022-07-26       Impact factor: 1.534

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

  3 in total

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