Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

Author:

Ansar Muhammad1,Paracha Sohail Aziz2,Serretti Alessandro3,Sarwar Muhammad T2,Khan Jamshed2,Ranza Emmanuelle14,Falconnet Emilie1,Iwaszkiewicz Justyna5,Shah Sayyed Fahim6,Qaisar Azhar Ali7,Santoni Federico A18,Zoete Vincent59,Megarbane Andre10,Ahmed Jawad2,Colombo Roberto1112,Makrythanasis Periklis113,Antonarakis Stylianos E1414

Affiliation:

1. Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland

2. Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan

3. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

4. Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland

5. Swiss Institute of Bioinformatics, Molecular Modeling Group, Batiment Genopode, Unil Sorge, Lausanne, Switzerland

6. Department of Medicine, KMU Institute of Medical Sciences, Kohat, Pakistan

7. Radiology Department, Lady Reading Hospital, Peshawar, Pakistan

8. Department of Endocrinology Diabetes and Metabolism, University Hospital of Lausanne, Lausanne, Switzerland

9. Department of Fundamental Oncology, Lausanne University, Ludwig Institute for Cancer Research, Route de la Corniche 9A, Epalinges, Switzerland

10. Institut Jerome Lejeune, Paris, France

11. Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University IRCCS Policlinico Gemelli, Rome, Italy

12. Center for the Study of Rare Hereditary Diseases, Niguarda Ca’ Granda Metropolitan Hospital, Milan, Italy

13. Biomedical Research Foundation of the Academy of Athens, Athens, Greece

14. iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland

Funder

ERC

NIGMS

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference62 articles.

1. Genetics of recessive cognitive disorders;Musante;Trends Genet.,2014

2. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan;Rafiq;Clin. Genet.,2010

3. Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome;Backx;Am. J. Med. Genet. A,2010

4. The epidemiology of mental retardation: challenges and opportunities in the new millennium;Leonard;Dev. Disabil. Res. Rev.,2002

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