Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
Malaysian Orthopaedic Journal
;
: 145-149, 2022.
Artigo
em Inglês
| 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.
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Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
Malaysian Orthopaedic Journal
Ano de publicação:
2022
Tipo de documento:
Artigo
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