A novel variant in DOCK6 gene associated with Adams–Oliver syndrome type 2
Author:
Affiliation:
1. Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
2. Ophthalmology Department, King Saud University, Riyadh, Saudi Arabia
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1776339
Reference22 articles.
1. HEREDITARY DEFORMITIES IN MAN
2. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects
3. Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
4. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies
5. Mutations in NOTCH1 Cause Adams-Oliver Syndrome
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1. A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome;Molecular Biology Reports;2023-05-03
2. Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects;Clinical Dysmorphology;2023-02-02
3. Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome;European Journal of Medical Genetics;2022-12
4. Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy;International Journal of Ophthalmology;2022-08-18
5. RHO to the DOCK for GDP disembarking: Structural insights into the DOCK GTPase nucleotide exchange factors;Journal of Biological Chemistry;2021-01
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