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The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome
BACKGROUND: Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain and the genitalia but also the cardiac, skeletal and gastroenteric system, t...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4788854/ https://ncbi.nlm.nih.gov/pubmed/26969503 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0287-1 |
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