A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported-Reference-Cited by-同舟云学术

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A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported

Published:2024-03-15 Issue:3 Volume:33 Page:114-117
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Fernandes da Rocha Diogo¹,Quental Rita¹,Grangeia Ana¹²,Pinto Moura Carla¹²³⁴

Affiliation:

1. Serviço de Genética Humana, Centro Hospitalar Universitário de São João, Unidade Local de Saúde São João

2. Departamento de Genética, Faculdade de Medicina da Universidade do Porto

3. i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto

4. Serviço de Otorrinolaringologia, Centro Hospitalar Universitário de São João, Unidade Local de Saúde São João, Porto, Portugal

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference5 articles.

1. Cardiofacioneurodevelopmental syndrome: report of a novel patient and expansion of the phenotype.;Abdalla;Am J Med Genet A,2022

2. Loss of function mutations in Ccdc32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.;Harel;Hum Mol Genet,2020

3. Coiled-coil domain-containing (Ccdc) proteins: functional roles in general and male reproductive physiology.;Priyanka;Reprod Sci,2021

4. Genes and molecular pathways underpinning ciliopathies.;Reiter;Nat Rev Mol Cell Biol,2017

5. A genome-wide atlas of co-essential modules assigns function to uncharacterized genes.;Wainberg;Nat Genet,2021

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An AAGAB-to-CCDC32 handover mechanism controls the assembly of the AP2 adaptor complex;Proceedings of the National Academy of Sciences;2024-08-15

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