Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome-Reference-Cited by-同舟云学术

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Published:2019-05-23 Issue:7 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ben Haj Ali Abir¹²,Amouri Ahlem¹²,Sayeb Marwa²,Makni Saloua³,Hammami Wajih¹²,Naouali Chokri²,Dallali Hamza²,Romdhane Lilia²,Bashamboo Anu⁴,McElreavey Kenneth⁴,Abdelhak Sonia²,Messaoud Olfa²

Affiliation:

1. Laboratory of Histology and Cytogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia

2. Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia

3. Children's Hospital of Tunis Tunis Tunisia

4. Human Developmental Genetics Institut Pasteur de Paris Paris France

Funder

FP7 Coordination of Non-Community Research Programmes

Ministry of Higher Education and Scientific Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.694

Reference59 articles.

1. Experience of a Family Clinic at Benghazi, Libya, and Sociomedical Aspects of its Catchment Population

2. High frequency of exon 15 deletion in the FANCA gene in T unisian patients affected with F anconi anemia disease: implication for diagnosis

3. Diagnosis of Fanconi anemia by diepoxybutane analysis;Auerbach A. D.;Current Protocols in Human Genetics,2003

4. Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

5. Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

Cited by 5 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. Cytogenetic Analysis of Patients with Hematological Malignancies;Cytology and Genetics;2023-06

2. Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia;Molecular Biology Reports;2022-11-11

3. Hypertonia, Microcephaly and Hyperkalaemia in a Neonate: Coexistence of Neurodevelopmental Disorder and Adrenal Insufficiency;IRAN J CHILD NEUROL;2022

4. Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report;Molecular Cytogenetics;2020-08-10

5. HEMATOPOIETIC STEM CELL TRANSPLANTATION IN EGYPT CHALLENGES AND SOLUTIONS;Mediterranean Journal of Hematology and Infectious Diseases;2020-04-27