title: Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene.
authors.affiliation: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
authors.forename: Arushi Gahlot
authors.initials: AG
authors.lastname: Saini
authors.affiliation: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
authors.forename: Hansashree
authors.initials: H
authors.lastname: Padmanabh
authors.affiliation: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
authors.forename: Jitendra Kumar
authors.initials: JK
authors.lastname: Sahu
authors.affiliation: Institute of Human Genetics, Jena University Hospital, 07743, Jena, Germany.
authors.forename: Ingo
authors.initials: I
authors.lastname: Kurth
authors.affiliation: Institute of Human Genetics, Jena University Hospital, 07743, Jena, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Voigt
authors.affiliation: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India. doctorpratibhasinghi@gmail.com.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Singhi
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D000699:Pain Insensitivity, Congenital / Q000150:complications / Q000235:genetics*; D011115:Polyneuropathies / Q000150:complications / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C587499:Prdm12 protein, human