A homozygous potentially pathogenic variant in thePAXBP1gene in a large family with global developmental delay and myopathic hypotonia-Reference-Cited by-同舟云学术

A homozygous potentially pathogenic variant in thePAXBP1gene in a large family with global developmental delay and myopathic hypotonia

Author:

Alharby E.¹,Albalawi A.M.¹,Nasir A.²,Alhijji S.A.³,Mahmood A.⁴,Ramzan K.⁵,Abdusamad F.¹,Aljohani A.⁶,Abdelsalam O.⁷,Eldardear A.⁸,Basit S.¹^ORCID

Affiliation:

1. Center for Genetics and Inherited Diseases; Taibah University; Almadinah Almunawwarah Saudi Arabia

2. Synthetic Protein Engineering Laboratory (SPEL); Ajou University; Suwon Korea

3. Paediatric Neurology Department; King Abdullah Medical City, Madinah Maternity and Children Hospital; Almadinah Almunawwarah Saudi Arabia

4. Stem Cells Unit, Department of Anatomy; King Khalid University Hospital, King Saud University; Riyadh Saudi Arabia

5. Department of Genetics, Research Centre; King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

6. College of Applied Medical Sciences; Taibah University; Almadinah Almunawwarah Saudi Arabia

7. Faculty of Medicine; Mansoura University; Egypt

8. College of Medicine; Taibah University; Almadinah Almunawwarah Saudi Arabia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

Reference22 articles.

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