Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11-Reference-Cited by-同舟云学术

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

Published:2018-08-08 Issue:9 Volume:176 Page:1991-1995
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

De Bernardi Margherita Lucia¹,Ivanovski Ivan¹^ORCID,Caraffi Stefano Giuseppe¹,Maini Ilenia¹,Street Maria Elisabeth²,Bayat Allan³^ORCID,Zollino Marcella⁴^ORCID,Lepri Francesca Romana⁵^ORCID,Gnazzo Maria⁵,Errichiello Edoardo⁶,Superti‐Furga Andrea⁷,Garavelli Livia¹^ORCID

Affiliation:

1. Medical Genetics Unit, Maternal and Child Health DepartmentAUSL‐IRCCS of Reggio Emilia Reggio Emilia Italy

2. Division of Pediatric Endocrinology and Diabetology, Maternal and Child Health DepartmentAUSL‐IRCCS of Reggio Emilia Reggio Emilia Italy

3. Department of Clinical Genetics, RigshospitaletUniversity Hospital of Copenhagen Copenhagen Denmark

4. Institute of Genomic MedicineCatholic University, Gemelli Hospital Foundation Rome Italy

5. Laboratory of Medical GeneticsBambino Gesù Children's Hospital‐IRCCS Rome Italy

6. Department of Molecular MedicineUniversity of Pavia Pavia Italy

7. Division of Genetic MedicineCentre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne Lausanne Switzerland

Funder

FONDAZIONE MANODORI

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40386

Reference19 articles.

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5. Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

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1. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search;Orphanet Journal of Rare Diseases;2024-08-12

2. Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype;Pediatric Neurology;2024-06

3. 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

4. The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples;Journal of Medical Genetics;2023-06-08

5. Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients;Journal of Medical Genetics;2022-11-29