Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.
Abstract
RAC1 encodes the protein RAS-related C3 Botulinum Toxin Substrate 1 (RAC1), which plays a pivotal role in various cellular functions. Pathogenic variants in RAC1 are linked to the rare intellectual developmental disorder, autosomal-dominant 48 (MRD48). We present one case with typical phenotype and two cases with a mild phenotype. This report expands the phenotypic spectrum of MRD48.
추출된 의학 개체 (NER)
| 유형 | 영어 표현 | 한국어 / 풀이 | UMLS CUI | 출처 | 등장 |
|---|---|---|---|---|---|
| 시술 | botulinum toxin
|
보툴리눔독소 주사 | dict | 1 | |
| 해부 | cellular
|
scispacy | 1 | ||
| 질환 | Developmental Disorder
|
C0008073
Developmental Disabilities
|
scispacy | 1 | |
| 질환 | autosomal-dominant
|
C0443147
Autosomal dominant inheritance
|
scispacy | 1 | |
| 기타 | RAC1
→ RAS-related C3 Botulinum Toxin Substrate 1
|
scispacy | 1 |
MeSH Terms
Humans; rac1 GTP-Binding Protein; Intellectual Disability; Female; Male; Phenotype; Mutation; Child; Child, Preschool
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