Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities-Reference-Cited by-同舟云学术

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

Published:2018-01-31 Issue:3 Volume:176 Page:715-721
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alrakaf Laila¹,Al-Owain Mohammed A.²,Busehail Maryam²,Alotaibi Maha A.³,Monies Dorota¹⁴,Aldhalaan Hesham M.⁵,Alhashem Amal⁶,Al-Hassnan Zuhair N.²⁷,Rahbeeni Zuhair A.²,Murshedi Fathiya Al⁸,Ani Nadia Al⁸⁹,Al-Maawali Almundher⁸⁹,Ibrahim Niema A.¹,Abdulwahab Firdous M.¹,Alsagob Maysoon¹,Hashem Mais O.¹,Ramadan Wafaa¹,Abouelhoda Mohamed¹⁴,Meyer Brian F.¹⁴,Kaya Namik¹,Maddirevula Sateesh¹,Alkuraya Fowzan S.¹⁴⁶⁷^ORCID

Affiliation:

1. Department of Genetics; King Faisal Specialist Hospital Research Center; Riyadh Saudi Arabia

2. Department of Medical Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

3. Clinical Genetic and Metabolic Department; King Saud Medical city; Riyadh Saudi Arabia

4. Saudi Human Genome Program; King Abdulaziz City for Science and Technology; Riyadh Saudi Arabia

5. Department of Neuroscience; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

6. Department of Pediatrics; Prince Sultan Military Medical City; Riyadh Saudi Arabia

7. Department of Anatomy and Cell Biology; College of Medicine; Alfaisal University; Riyadh Saudi Arabia

8. Genetic and Developmental Medicine Clinic; Sultan Qaboos University Hospital; Muscat Oman

9. Department of Genetics; College of Medicine and Health Sciences; Sultan Qaboos University; Muscat Oman

Funder

King Abdulaziz City for Science and Technology

King Salman Center for Disability Research (FSA)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38615/fullpdf

Reference16 articles.

1. Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden;Abouelhoda;Genetics in Medicine,2016

2. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia;Akizu;The American Journal of Human Genetics,2013

3. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus;Alazami;Journal of Medical Genetics,2013

4. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families;Alazami;Cell Reports,2015

5. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield;Anazi;Molecular Psychiatry,2017

Cited by 8 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. Founder mutations and rare disease in the Arab world;Disease Models & Mechanisms;2024-06-01

2. A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome;Brain and Development;2023-10

3. Manifestations oculaires au cours du syndrome de Temtamy : à propos d’un cas;Journal Français d'Ophtalmologie;2022-12

4. C12orf57 pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child;Journal of Genetics;2022-06-14

5. Heterogeneity in biomarkers, mitogenome and genetic disorders of Arab population with special emphasis on large-scale whole-exome sequencing;Archives of Medical Science;2021-12-27