Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy

Am J Med Genet A. 2021 Feb;185(2):596-599. doi: 10.1002/ajmg.a.61961. Epub 2020 Nov 13.

Authors

Praisy Joy¹, Sangeetha Yoganathan², Sophy Korula³, Suneetha Susan C Abraham¹, Anitha M Barney¹, Vrisha Madhuri Walter⁴, Sridhar Gibikote⁵, Sumita Danda¹

Affiliations

¹ Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
² Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
³ Department of Pediatric Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India.
⁴ Department of Pediatric Orthopedics, Christian Medical College, Vellore, Tamil Nadu, India.
⁵ Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India.

PMID: 33185009
DOI: 10.1002/ajmg.a.61961

No abstract available

Publication types

Letter

MeSH terms

Adrenal Cortex Hormones / administration & dosage*
Anemia, Refractory / diagnostic imaging
Anemia, Refractory / drug therapy
Anemia, Refractory / genetics*
Anemia, Refractory / pathology
Child
Exome Sequencing
Female
Genetic Predisposition to Disease*
Humans
Male
Osteochondrodysplasias / diagnostic imaging
Osteochondrodysplasias / drug therapy
Osteochondrodysplasias / genetics*
Osteochondrodysplasias / pathology
Thromboxane-A Synthase / genetics*

Substances

Adrenal Cortex Hormones
Thromboxane-A Synthase

Supplementary concepts

Ghosal Hematodiaphyseal Dysplasia