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Auditory phenotype of Smith–Lemli–Opitz syndrome
Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation and intellectual disability syndrome resulting from variants in DHCR7. Auditory characteristics of persons with SLOS have been described in limited case reports but have not been systematically evaluated. Th...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Am J Med Genet A |
|---|---|
| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2021
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7994936/ https://ncbi.nlm.nih.gov/pubmed/33529473 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.62087 |
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