A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin-Reference-Cited by-同舟云学术

A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin

Author:

Al Mutairi Fuad¹²,Alzahrani Fatema³,Ababneh Farouq¹,Kashgari Amna A.⁴,Alkuraya Fowzan S.³⁵⁶

Affiliation:

1. Medical Genetic Division, Department of Pediatrics, King Abdulaziz Medical City; Riyadh Saudi Arabia

2. King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz; University for Health Sciences; Riyadh Saudi Arabia

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

4. Medical Imaging Department, King Abdulaziz Medical City; Riyadh Saudi Arabia

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

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

Funder

King Salman Center for Disability Research

King Abdulaziz City for Science and Technology

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

Reference17 articles.

3. Neural-tube defects;Botto;N Engl J Med,1999

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