title: Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome.
authors.affiliation: Department of Pediatrics, Bharati Vidyapeeth University Medical College, Pune, Maharashtra, India.
authors.forename: Ruma
authors.initials: R
authors.lastname: Deshpande
authors.affiliation: Department of Growth and Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, 32 Sassoon Road, Pune, Maharashtra, 411 001, India.
authors.forename: Lavanya
authors.initials: L
authors.lastname: Parthasarathy
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
authors.forename: Ashwin
authors.initials: A
authors.lastname: Dalal
authors.affiliation: Department of Growth and Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, 32 Sassoon Road, Pune, Maharashtra, 411 001, India. vamankhadilkar@gmail.com.
authors.forename: Vaman
authors.initials: V
authors.lastname: Khadilkar
authors.affiliation: Department of Growth and Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, 32 Sassoon Road, Pune, Maharashtra, 411 001, India.
authors.forename: Anuradha
authors.initials: A
authors.lastname: Khadilkar
mesh_terms: D000293:Adolescent; D000359:Aftercare; D003286:Contracture / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D019468:Disease Management; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D015614:Histiocytosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D033703:Nucleoside Transport Proteins / Q000235:genetics*
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human