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A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia
Cranio‐lenticulo‐sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. The original family (Boyadjiev et al., Human Genetics, 2003, 113, 1–9 and Boyadjiev et al., Nature Genetics, 2006, 38, 1192–1197) showed recessive inheritance of the...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291540/ https://www.ncbi.nlm.nih.gov/pubmed/34580982 http://dx.doi.org/10.1002/ajmg.a.62506 |