First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference5 articles.
1. Genetic disorders of the osseous skeleton;Rimoin,1993
2. Localization of the achondroplasia gene to distal 25 Mb of human chromosome 4p;Francomano;Hum Mol Genet,1994
3. The gene for achondroplasia maps to the telomeric region of chromosome 4p;Velinov;Nat Genet,1994
4. Mutations in the transmembrane domain of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia;Shiang;Cell,1994
5. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia;Rousseau;Nature,1994
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1. Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders;Genetic Disorders and the Fetus;2021-04-20
2. Neurological Manifestations of Achondroplasia;Current Neurology and Neuroscience Reports;2019-11-28
3. Possible Achondroplastic Dwarf Skull from Montevideo, Uruguay;Journal of Forensic Sciences;2016-09-16
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5. ACHONDROPLASIA AND PREGNANCY;Journal of Evolution of Medical and Dental Sciences;2014-04-16
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