In this video, I describe Smith-Lemli-Opitz, whereby disrupted cholesterol biosynthesis in an embryo leads to defective embryonic signalling and also sexual differentiation. I make reference to Shh (Sonic Hedgehog) signalling and holoprosencephaly and external genitalia formation. 

Sadler, T. and Langman, J. (2015). Langman's medical embryology. pp.330-331.

In this video, I describe Smith-Lemli-Opitz, whereby disrupted cholesterol biosynthesis in an embryo leads to defective embryonic signalling and also sexual differentiation. I make reference to Shh (Sonic Hedgehog) signalling and holoprosencephaly and external genitalia formation. Sadler, T. and Langman, J. (2015). Langman's medical embryology. pp.330-331.

Defective cholesterol synthesis: Smith-Lemli-Opitz syndrome

Basic medical science insights from a final year medical student

Apple podcast: https://itunes.apple.com/gb/podcast/basic-medical-science-insights/id1439016520


DISCLAIMER: 

I am a UK medical student and am neither a qualified doctor nor a professional scientist (yet).

The content in this channel may contain factual errors.

I do not intend to profess myself as an expert on any of the topics discussed and further information should be sought on accredited platforms, such as BMJ Best Practice and PubMed/COCHRANE. Medical advice should be sought from your physician.

TV & Film

Basic medical science insights from a final year medical student Apple podcast: https://itunes.apple.com/gb/podcast/basic-medical-science-insights/id1439016520 DISCLAIMER: I am a UK medical student and am neither a qualified doctor nor a professional scientist (yet). The content in this channel may contain factual errors. I do not intend to profess myself as an expert on any of the topics discussed and further information should be sought on accredited platforms, such as BMJ Best Practice and PubMed/COCHRANE. Medical advice should be sought from your physician.

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Defective cholesterol synthesis: Smith-Lemli-Opitz syndrome

Defective cholesterol synthesis: Smith-Lemli-Opitz syndrome