KBG syndrome: Common and uncommon clinical features based on 31 new patients-Reference-Cited by-同舟云学术

KBG syndrome: Common and uncommon clinical features based on 31 new patients

Published:2020-03-03 Issue:5 Volume:182 Page:1073-1083
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gnazzo Maria¹,Lepri Francesca R¹^ORCID,Dentici Maria Lisa¹^ORCID,Capolino Rossella¹,Pisaneschi Elisa¹,Agolini Emanuele¹^ORCID,Rinelli Martina¹,Alesi Viola¹,Versacci Paolo²,Genovese Silvia¹^ORCID,Cesario Claudia¹,Sinibaldi Lorenzo¹,Baban Anwar¹^ORCID,Bartuli Andrea¹,Marino Bruno²,Cappa Marco¹,Dallapiccola Bruno¹,Novelli Antonio¹,Digilio Maria Cristina¹^ORCID

Affiliation:

1. Laboratory of Medical Genetics, Medical Genetics, Rare DiseasesPediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS Rome Italy

2. Pediatric CardiologyDepartment of Pediatrics, Sapienza University Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61524

Reference35 articles.

1. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

2. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

3. KBG syndrome in a cohort of Italian patients

4. KBG syndrome

5. Atrioventricular canal defect without Down syndrome: A heterogeneous malformation

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1. Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype;Epilepsy & Behavior Reports;2024

2. Ocular manifestations in a cohort of 43 patients with KBG syndrome;American Journal of Medical Genetics Part A;2023-11-14

3. Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome;Epilepsia Open;2023-08-18

4. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature;Journal of Medical Genetics;2023-08-16

5. Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome;American Journal of Medical Genetics Part A;2023-01-11