Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype-Reference-Cited by-同舟云学术

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Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

Published:2022-04-22 Issue:8 Volume:188 Page:2448-2453
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Abdalla Ebtesam¹²,Alawi Malik³,Meinecke Peter⁴,Kutsche Kerstin⁴^ORCID,Harms Frederike L.⁴

Affiliation:

1. Department of Human Genetics Medical Research Institute, Alexandria University Alexandria Egypt

2. Genetics Department Armed Forces College of Medicine (AFCM) Cairo Egypt

3. Bioinformatics Core, University Medical Center Hamburg‐Eppendorf Hamburg Germany

4. Institute of Human Genetics, University Medical Center Hamburg‐Eppendorf Hamburg Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62762

Reference16 articles.

1. Endocytic Protein Defects in the Neural Crest Cell Lineage and Its Pathway Are Associated with Congenital Heart Defects

2. Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph–ephrin boundaries

3. N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations EstablishAp2s1Loss-of-Function Mice

4. Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

5. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

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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

2. CCDC189 depletion leads to oligo-astheno-teratozoospermia and male infertility in mice;Biology of Reproduction;2024-07-17

3. CCDC32 stabilizes clathrin-coated pits and drives their invagination;2024-06-26

4. A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported;Clinical Dysmorphology;2024-03-15

5. Breast cancer risk SNPs and associated expression QTLs focusing Bangladeshi population: An in silico analysis;Human Gene;2024-02

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