The phenotypic spectrum of Xia‐Gibbs syndrome

The phenotypic spectrum of Xia‐Gibbs syndrome

Xia‐Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT‐Hook DNA Binding Motif Containing 1 gene ( AHDC1 ). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of...

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Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Yunyun Jiang, Michael F. Wangler, Amy L. McGuire, James R. Lupski, Jennifer E. Posey, Michael M. Khayat, David R. Murdock, Luis Sánchez‐Pulido, Chris P. Ponting, Fan Xia, Jill V. Hunter, Qingchang Meng, Mullai Murugan, Richard A. Gibbs
Formáid:	Artigo
Teanga:	Béarla
Foilsithe / Cruthaithe:	2018
Rochtain ar líne:	https://doi.org/10.1002/ajmg.a.38699
Clibeanna:	Cuir clib leis Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!

Míreanna comhchosúla

The phenotypic spectrum of Xia-Gibbs syndrome
de réir: Jiang, Yunyun, et al.
Foilsithe / Cruthaithe: (2018)

AHDC1 missense mutations in Xia-Gibbs syndrome
de réir: Khayat, Michael M., et al.
Foilsithe / Cruthaithe: (2021)

Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition
de réir: Murdock, David R., et al.
Foilsithe / Cruthaithe: (2019)

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia–Gibbs syndrome
de réir: Khayat, Michael M., et al.
Foilsithe / Cruthaithe: (2021)

Xia-Gibbs Syndrome: A Review of Literature
de réir: Goyal, Chanan, et al.
Foilsithe / Cruthaithe: (2020)

Xia-Gibbs syndrome (XGS): a case report
de réir: Mariana de Castro Ferreira, et al.
Foilsithe / Cruthaithe: (2024)

Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort
de réir: Maísa Ganz Sanchez Sennes, et al.
Foilsithe / Cruthaithe: (2025)

Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency
de réir: Cheng, Xinran, et al.
Foilsithe / Cruthaithe: (2019)

Correction: Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis
de réir: Nan Jiang, et al.
Foilsithe / Cruthaithe: (2025)

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)
de réir: Mubungu, Gerrye, et al.
Foilsithe / Cruthaithe: (2021)

Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review
de réir: Della Vecchia, Stefania, et al.
Foilsithe / Cruthaithe: (2021)

Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
de réir: Cardoso-dos-Santos, Augusto C., et al.
Foilsithe / Cruthaithe: (2020)

Latex-Free Anesthesia for Craniosynostosis Surgery Associated With Xia-Gibbs Syndrome: A Case Report
de réir: Matheus S Nascimento, et al.
Foilsithe / Cruthaithe: (2023)

Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into Physiotherapy Management
de réir: Goyal, Chanan, et al.
Foilsithe / Cruthaithe: (2020)

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome
de réir: García-Acero, Mary, et al.
Foilsithe / Cruthaithe: (2017)

Letter from Dr. Gibbs
de réir: Gibbs, O. C.
Foilsithe / Cruthaithe: (1860)

Standard Gibbs Energy of Metabolic Reactions: III The 3-Phosphoglycerate Kinase Reaction
de réir: Wangler, Anton, et al.
Foilsithe / Cruthaithe: (2018)

Duncan Stuart Gibbs
de réir: Allenby, James, et al.
Foilsithe / Cruthaithe: (2008)

In Memoriam: Gibbs
Foilsithe / Cruthaithe: (1948)

The Gibbs Paradox
de réir: Saunders, Simon
Foilsithe / Cruthaithe: (2018)

Decision making in xia2
de réir: Winter, Graeme, et al.
Foilsithe / Cruthaithe: (2013)

In Memorium of Dr. Bing Xia
de réir: Qian, Jiaming, et al.
Foilsithe / Cruthaithe: (2015)

PhyloGibbs: A Gibbs Sampling Motif Finder That Incorporates Phylogeny
de réir: Siddharthan, Rahul, et al.
Foilsithe / Cruthaithe: (2005)

PhyloGibbs: A Gibbs Sampling Motif Finder That Incorporates Phylogeny
de réir: Rahul Siddharthan, et al.
Foilsithe / Cruthaithe: (2005)

Gibbs free energy as a measure of complexity correlates with time within C. elegans embryonic development
de réir: McGuire, Samuel H., et al.
Foilsithe / Cruthaithe: (2017)

Characterization of Novel Forms of Coagulation Factor XIa: INDEPENDENCE OF FACTOR XIa SUBUNITS IN FACTOR IX ACTIVATION
de réir: Smith, Stephen B., et al.
Foilsithe / Cruthaithe: (2008)

Dr Gibb comments
Foilsithe / Cruthaithe: (1990)

The Gibbs Centroid Sampler
de réir: Thompson, William A., et al.
Foilsithe / Cruthaithe: (2007)

James Heyward Gibbes
de réir: Moseley, Vince
Foilsithe / Cruthaithe: (1964)

Gibb and Melendez reply
de réir: Gibb, Paul, et al.
Foilsithe / Cruthaithe: (1986)

Harold Pace Gibb
de réir: Cardell, J. D. M.
Foilsithe / Cruthaithe: (1956)

Gibb, William Travis
Foilsithe / Cruthaithe: (1939)

Mrs. Lawrence Gibbs
Foilsithe / Cruthaithe: (1901)

William Fletcher Gibb
Foilsithe / Cruthaithe: (1923)

William Gibb Dun
Foilsithe / Cruthaithe: (1928)

Drs. Hall & Gibbs
Foilsithe / Cruthaithe: (1875)

The Gibbs Centroid Sampler
de réir: William A. Thompson, et al.
Foilsithe / Cruthaithe: (2007)

Novel <b><i>AHDC1</i></b> Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
de réir: Augusto César Cardoso‐dos‐Santos, et al.
Foilsithe / Cruthaithe: (2020)

Coagulation procofactor activation by factor XIa
de réir: Matthew F. Whelihan, et al.
Foilsithe / Cruthaithe: (2010)

PhyloGibbs-MP: Module Prediction and Discriminative Motif-Finding by Gibbs Sampling
de réir: Siddharthan, Rahul
Foilsithe / Cruthaithe: (2008)