Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene

Indian J Pediatr. 2017 Apr;84(4):332-333. doi: 10.1007/s12098-016-2284-y. Epub 2017 Jan 3.

Authors

Arushi Gahlot Saini¹, Hansashree Padmanabh¹, Jitendra Kumar Sahu¹, Ingo Kurth², Martin Voigt², Pratibha Singhi³

Affiliations

¹ Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
² Institute of Human Genetics, Jena University Hospital, 07743, Jena, Germany.
³ Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India. doctorpratibhasinghi@gmail.com.

PMID: 28050684
DOI: 10.1007/s12098-016-2284-y

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Carrier Proteins / genetics*
Child, Preschool
Developmental Disabilities / complications
Developmental Disabilities / genetics*
Humans
Male
Mutation
Nerve Tissue Proteins / genetics*
Pain Insensitivity, Congenital / complications
Pain Insensitivity, Congenital / genetics*
Polyneuropathies / complications
Polyneuropathies / genetics*

Substances

Carrier Proteins
Nerve Tissue Proteins
Prdm12 protein, human