Biallelic loss of function variants in FUZresult in an orofaciodigital syndrome

Autor: Singh, Swati, Nampoothiri, Sheela, Narayanan, Dhanya Lakshmi, Chaudhry, Chakshu, Salvankar, Sandesh, Girisha, Katta M.

Publikováno v: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-5, 5p

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

Autor: Singh S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Nampoothiri S; Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Chaudhry C; Suma Genomics Private Limited, Manipal, India., Salvankar S; Suma Genomics Private Limited, Manipal, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India. girish.katta@manipal.edu.; Suma Genomics Private Limited, Manipal, India. girish.katta@manipal.edu.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman. girish.katta@manipal.edu.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 1022-1026. Date of Electronic Publication: 2024 May 03.