Clinical refinement of the SETD5 ‐associated phenotype in a child displaying novel features and KBG syndrome‐like appearance
Author:
Affiliation:
1. Medical Genetics, Department of Molecular Medicine Sapienza University, San Camillo‐Forlanini Hospital Rome Italy
2. Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS Rome Italy
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62679
Reference22 articles.
1. Expanding the phenotype of SETD5 ‐related disorder and presenting a novel association with bone fragility
2. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
3. SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
4. Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
5. Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition
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1. First diagnosis of fetal SETD5 mutation during pregnancy，demonstrating an association with congenital heart disease;2024-06-27
2. Structure, activity and function of the lysine methyltransferase SETD5;Frontiers in Endocrinology;2023-02-17
3. Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes;Frontiers in Genetics;2023-01-04
4. Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome;International Journal of Molecular Sciences;2022-05-25
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