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Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

NIAID Data Ecosystem2026-03-13 收录

罕见病基因诊断

临床遗传学分析

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA788062 数据链接链接失效反馈

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资源简介：

Identification of causative genes in rare diseases

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创建时间：

2021-12-11

罕见病基因诊断

下一代测序技术

We report a case of sitosterolemia, which is a rare genetic disease, characterized by increased plant sterol absorption and great heterogeneity of clinical manifestations. Our patient was initially re

NIAID Data Ecosystem50

Pathogenic GNPTAB gene mutation summary in our 16 patients.

遗传病基因突变

临床遗传学分析

Pathogenic GNPTAB gene mutation summary in our 16 patients.

Figshare2016-09-24 更新20

Rubinstein-Taybi Syndrome. Genetic diagnosis of Rubinstein-Taybi Syndrome with Multiplex Ligation-dependent Probe Amplification (MLPA) and Whole Exome Sequencing (WES): A Case Series with 3 Novel CREBBP Variants

罕见病基因诊断

CREBBP基因变异

Rubinstein-Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broad thumbs and halluces, and developmental delay. RSTS is caused by de novo genetic alterations in CRE

NIAID Data Ecosystem10

Data table 1 - Demographic characteristics of the cohort

遗传性免疫缺陷基因组学

罕见病基因诊断

Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The

Figshare2023-01-30 更新30

DataSheet3_Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.PDF

罕见病基因诊断

先天性异常

Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long

NIAID Data Ecosystem10

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

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