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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Vydáno v:BMC Med Genet
Hlavní autoři: Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Case Report
On-line přístup: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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