Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia-Reference-Cited by-同舟云学术

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia

Author:

Abdel‐Salam Ghada M. H.¹^ORCID,Mazen Inas¹,Eid Maha²,Ewida Nour³,Shaheen Ranad³,Alkuraya Fowzan S.³⁴⁵^ORCID

Affiliation:

1. Clinical Genetics Department, Human Genetics and Genome Research DivisionNational Research Centre Cairo Egypt

2. Human Cytogenetics Department, Human Genetics and Genome Research DivisionNational Research Centre Cairo Egypt

3. Department of GeneticsKing Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

4. Saudi Human Genome ProgramKing Abdulaziz City for Science and Technology Riyadh Saudi Arabia

5. Department of Anatomy and Cell BiologyCollege of Medicine, Alfaisal University Riyadh Saudi Arabia

Funder

Saudi Human Genome Program

King Salman Center for Disability Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference15 articles.

1. Exome sequencing identifies three novel candidate genes implicated in intellectual disability;Agha Z.;PLoS Genetics,2014

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