Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels
Low bone mass in Noonan syndrome children correlates with decreased [...]
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Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice
Identification of the third FGF9 variant in a girl with [...]
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population
Presenting features and molecular genetics of primary hyperparathyroidism in the [...]
Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy
Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement [...]
Utility of genetic testing for prenatal presentations of hypophosphatasia
Utility of genetic testing for prenatal presentations of hypophosphatasia Sperelakis-Beedham [...]
Hypophosphatasia: A Case of Two Patients With Spinal Cord Compression From Increase in Ligamentous Ossifications During Treatment
Hypophosphatasia: A Case of Two Patients With Spinal Cord Compression [...]
The Treatment of Recurrent Congential clubfoot
The Treatment of Recurrent Congential clubfoot Radler C. Foot Ankle [...]
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
Caffey disease is associated with distinct arginine to cysteine substitutions [...]
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Safe and persistent growth-promoting effects of vosoritide in children with [...]
Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
Lifetime impact of achondroplasia: Current evidence and perspectives on the [...]
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