P514: Central precocious puberty in KBG syndrome with a pathogenic variant in ANKRD11

analysis confirmed that this variant results in abnormal splicing event, which supports its pathogenicity in causing hepatic adenomatosis.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103381
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

P514: Central precocious puberty in KBG syndrome with a pathogenic variant in ANKRD11

Jieun Lee, Jisun Park, Eunyoung Joo, Sujin Kim
Genetics in Medicine Open
Immunodeficiency and Autoimmune Disorders
article

P514: Central precocious puberty in KBG syndrome with a pathogenic variant in ANKRD11

Jieun Lee, Jisun Park, Eunyoung Joo, Sujin Kim
article en

Abstract

analysis confirmed that this variant results in abnormal splicing event, which supports its pathogenicity in causing hepatic adenomatosis.

Genetics in Medicine OpenVol. 3
Inha University (KR), Inha University Hospital (KR)
Gender equality
Openalex Percentile: Top 95%
Immunodeficiency and Autoimmune Disorders
DOIOpen Access PDFOpenAlex
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P514: Central precocious puberty in KBG syndrome with a pathogenic variant in ANKRD11 — Jieun Lee, Jisun Park, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS