Page 1 | Search Results | Molecular Syndromology

1-3 of 3

Sort by

Sort Order Select

Journal Articles

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

Subject Area:

Miriam Bertrand, Gulalai Shah, Brent S. Pedersen, Alexander Schulz, Anja Weise, Thomas Liehr, Peter Huppke, Stephanie DiTroia, Aaron R. Quinlan, Tobias B. Haack, Ralf A. Husain

Mol Syndromol 1–9.

https://doi.org/10.1159/000538918

Published Online: 20 May 2024

...Miriam Bertrand; Gulalai Shah; Brent S. Pedersen; Alexander Schulz; Anja Weise; Thomas Liehr; Peter Huppke; Stephanie DiTroia; Aaron R. Quinlan; Tobias B. Haack; Ralf A. Husain Introduction: Xia-Gibbs syndrome (XGS) is a rare syndromic disorder characterized by developmental delay with intellectual...

View article titled, De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

Journal Articles

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

Subject Area:

Genetics

Margherita Baga, Ivan Ivanovski, Gianluca Contrò, Stefano Giuseppe Caraffi, Carlotta Spagnoli, Carlo Alberto Cesaroni, Alberto Neri, Francesca Peluso, Marzia Pollazzon, Livia Garavelli, Carlo Fusco

Mol Syndromol (2024) 15 (1): 63–70.

https://doi.org/10.1159/000530410

Published Online: 08 September 2023

...Margherita Baga; Ivan Ivanovski; Gianluca Contrò; Stefano Giuseppe Caraffi; Carlotta Spagnoli; Carlo Alberto Cesaroni; Alberto Neri; Francesca Peluso; Marzia Pollazzon; Livia Garavelli; Carlo Fusco Introduction: Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused...

View article titled, 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

Journal Articles

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

Subject Area:

Endocrinology , Further Areas , Genetics , Women's and Children's Health

Mary García-Acero, Johanna Acosta

Mol Syndromol (2017) 8 (6): 308–312.

https://doi.org/10.1159/000479357

Published Online: 08 September 2017

...Mary García-Acero; Johanna Acosta Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cysts, delayed myelination, micrognathia, and mild dysmorphic features. Using...

View article titled, Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

NARROW

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

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

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

Email alerts

INFORMATION

ABOUT US

SERVICES FOR

Karger International

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

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

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

Email alerts

This Feature Is Available To Subscribers Only