Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry...
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
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Publisher
Los Angeles, CA: SAGE Publications
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Language
English
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Publisher
Los Angeles, CA: SAGE Publications
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Contents
Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and digit anomalies in hemizygous males. Heterozygous females may also have features of CLS; however, ther...
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Full title
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_ba92ac4751da43b1b5235d1e07e9f189
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ba92ac4751da43b1b5235d1e07e9f189
Other Identifiers
ISSN
2324-7096
E-ISSN
2324-7096
DOI
10.1177/23247096221101844
