Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
Malaysian Orthopaedic Journal
;
: 145-149, 2022.
Article
Dans Anglais
| WPRIM
| ID: wpr-962273
ABSTRACT
@#We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant caused a severe recessive form of metatropic dysplasia.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
langue:
Anglais
Texte intégral:
Malaysian Orthopaedic Journal
Année:
2022
Type:
Article
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