Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features - Concepedia

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Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

57

Citations

15

References

2018

Year

Anna Kutkowska‐Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski, Kamila Kłosowska-Kosicka, Adriana Mika, Jakub Gruchota, Elżbieta Jurkiewicz, Cezary Kowaléwski, Agnieszka Pollak, Teresa Joanna Stradomska,

Journal of Medical Genetics

Abstract

The <i>ELOVL1</i> p.Ser165Phe mutation is a likely cause of IKSHD.

References

	Year	Citations

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