<scp>KBG</scp> syndrome in a Chinese population: A case series-Reference-Cited by-同舟云学术

KBG syndrome in a Chinese population: A case series

Published:2022-02-17 Issue:6 Volume:188 Page:1693-1699
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ho Stephanie¹^ORCID,Luk Ho‐Ming¹^ORCID,Lo Ivan F. M.¹

Affiliation:

1. Clinical Genetic Service, Department of Health HKSAR Hong Kong

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62688

Reference20 articles.

1. An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda

2. Ankrd11 Is a Chromatin Regulator Involved in Autism that Is Essential for Neural Development

3. Growth hormone therapy for children with KBG syndrome: A case report and review of literature

4. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation ofANKRD11

5. The KBG syndrome‐‐a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies;Herrmann J.;Birth Defects Original Article Series,1975

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1. Natural history of adults with KBG syndrome: A physician-reported experience;Genetics in Medicine;2024-08

2. Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndrome;Heliyon;2024-03

3. Obsessive Compulsive “Paper Handling”: A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome;Journal of Clinical Medicine;2022-08-11

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