Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Acromesomelic Dysplasia Maroteaux Type[original query] |
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Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Human mutation 2015 Apr 36 (4): 474-81. Wang Sophie R, Jacobsen Christina M, Carmichael Heather, Edmund Aaron B, Robinson Jerid W, Olney Robert C, Miller Timothy C, Moon Jennifer E, Mericq Veronica, Potter Lincoln R, Warman Matthew L, Hirschhorn Joel N, Dauber Andr |
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia. Case reports in endocrinology 2019 1 2018 7658496. Jacob Marianne, Menon Surabhi, Botti Christina, Marshall I |
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. Orphanet journal of rare diseases 2021 7 16 (1): 297. Kamil Gilyazetdinov, Yoon Ju Young, Yoo Sukdong, Cheon Chong K |
- Page last reviewed:Feb 1, 2024
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