Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis
Deng-Feng LI; Dan LAN; Jing-Zi ZHONG; Roma-Kajal DEWAN; Yan-Shu XIE; Ying YANG.
Chinese Journal of Contemporary Pediatrics
; (12): 539-544, 2017.
ArtÃculo en Zh | WPRIM | ID: wpr-297252
Documentos relacionados
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
A case report of odonto-hypophosphatasia with a novel variant in the <i>ALPL</i> gene.
A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.
Clinical Significance of Hypophosphatasemia in Children.
Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
Characterization of Genetic Variants of Uncertain Significance for the <i>ALPL</i> Gene in Patients With Adult Hypophosphatasia.
Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report.
Odontohypophosphatasia caused by a novel combination of two heterozygous variants: a case report.