Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia

Indian J Pediatr. 2021 Mar;88(3):270-271. doi: 10.1007/s12098-020-03502-w. Epub 2020 Sep 16.

Authors

Harikrishnan Gangadharan¹, Komal Singh¹, Shubha Phadke², Amita Aggarwal³

Affiliations

¹ Department of Clinical Immunology & Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
² Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
³ Department of Clinical Immunology & Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. aa.amita@gmail.com.

PMID: 32936385
DOI: 10.1007/s12098-020-03502-w

No abstract available

Publication types

Letter

MeSH terms

Humans
Mutation
Neutropenia* / diagnosis
Neutropenia* / genetics
Phosphoric Diester Hydrolases / genetics
Skin Abnormalities* / diagnosis
Skin Abnormalities* / genetics

Substances

Phosphoric Diester Hydrolases
USB1 protein, human

Supplementary concepts

Poikiloderma with Neutropenia