Double heterozygosity in bone growth disorders: Four new observations and review
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference23 articles.
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2. Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
3. Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: Prenatal diagnosis and postnatal outcome
4. Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia
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