Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital-Reference-Cited by-同舟云学术

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

Published:2018-08-27 Issue:9 Volume:176 Page:1890-1896
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ritter Alyssa L.¹^ORCID,McDougall Carey¹,Skraban Cara¹²,Medne Livija¹,Bedoukian Emma C.¹^ORCID,Asher Stephanie B.¹,Balciuniene Jorune³,Campbell Colleen D.³,Baker Samuel W.³,Denenberg Elizabeth H.³,Mazzola Sarah¹,Fiordaliso Sarah K.¹,Krantz Ian D.¹²,Kaplan Paige¹²,Ierardi‐Curto Lynne¹²,Santani Avni B.³⁴,Zackai Elaine H.¹²,Izumi Kosuke¹²³^ORCID

Affiliation:

1. Division of Human Genetics, Department of PediatricsThe Children's Hospital of Philadelphia Pennsylvania Philadelphia USA

2. Department of PediatricsPerelman School of Medicine at the University of Pennsylvania, Philadelphia Pennsylvania Philadelphia USA

3. Division of Genomic Diagnostics, Department of Pathology and Laboratory MedicineThe Children's Hospital of Philadelphia Pennsylvania Philadelphia USA

4. Department of Pathology and Laboratory MedicinePerelman School of Medicine at the University of Pennsylvania, Philadelphia Pennsylvania Philadelphia USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40380

Reference10 articles.

1. Novel genetic causes for cerebral visual impairment

2. Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

3. The phenotypic spectrum of Xia-Gibbs syndrome

4. Diagnostic value of exome and whole genome sequencing in craniosynostosis

5. Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

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1. <i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome;Molecular Syndromology;2024-05-20

2. Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature;Molecular Syndromology;2023-09-08

3. Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels;Genes;2023-02-28

4. Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism;Human Mutation;2022-09-24

5. Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report;World Journal of Clinical Cases;2022-07-26