Clinical features and mutation studies in Kabuki syndrome: Twenty cases from one Indian centre

Autor: Bhat, Meenakshi, N, Sanjeeva G, Varshney K, Supraja S, Subramaniyan A, Thenral SG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::923d1d4acbed98812ae657b00745a20f

Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.

Autor: Sinha R; Institute of Child Health, Kolkata, India.; Apollo Hospital, Kolkata, India., Pradhan S; SVPPGIP & SCB Medical College, Cuttack, India., Banerjee S; Institute of Child Health, Kolkata, India.; Calcutta Medical and Research Institute, Kolkata, India., Jahan A; Renowell Clinic and Pratiksha Hospital, Gauhati, India., Akhtar S; Institute of Child Health, Kolkata, India., Pahari A; Apollo Hospital, Kolkata, India., Raut S; North Bengal Medical College, Darjeeling, India., Parakh P; Neotia Getwel Healthcare Center, Siliguri, India., Basu S; Institute of Child Health, Kolkata, India., Srivastava P; Post Graduate Institute of Medical Education and Research, Chandigarh, India., Nayak S; SVPPGIP & SCB Medical College, Cuttack, India., Thenral SG; Medgenome Labs Ltd, Bangalore, India., Ramprasad V; Medgenome Labs Ltd, Bangalore, India., Ashton E; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK., Bockenhauer D; UCL Department of Renal Medicine and Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK., Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India. mandal.kausik@gmail.com.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 Aug; Vol. 37 (8), pp. 1811-1836. Date of Electronic Publication: 2022 Jan 10.