Učitavanje...
Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome
We report a case of a 1-year and 2-month-old girl with clinical features consistent with congenital hemidysplasia with ichthyosis and limb defects syndrome. Sterol analysis from skin flakes revealed increased levels of a mono 4-alpha methyl sterol also seen in plasma as well as the presence of 4-alp...
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| Izdano u: | BMJ Case Rep |
|---|---|
| Glavni autori: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Publishing Group
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7607564/ https://ncbi.nlm.nih.gov/pubmed/33139364 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-236859 |
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