Ichthyosis as the dermatological phenotype associated with TTC7A mutations

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Veröffentlicht in:British journal of dermatology (1951) 2016-11, Vol.175 (5), p.1061-1064
Hauptverfasser: Leclerc-Mercier, S., Lemoine, R., Bigorgne, A.E., Sepulveda, F., Leveau, C., Fischer, A., Mahlaoui, N., Hadj-Rabia, S., de Saint Basile, G.
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container_end_page 1064
container_issue 5
container_start_page 1061
container_title British journal of dermatology (1951)
container_volume 175
creator Leclerc-Mercier, S.
Lemoine, R.
Bigorgne, A.E.
Sepulveda, F.
Leveau, C.
Fischer, A.
Mahlaoui, N.
Hadj-Rabia, S.
de Saint Basile, G.
description
doi_str_mv 10.1111/bjd.14644
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ispartof British journal of dermatology (1951), 2016-11, Vol.175 (5), p.1061-1064
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source MEDLINE; Wiley Journals; Oxford University Press Journals All Titles (1996-Current)
subjects Alopecia - genetics
Animals
Cell Death - genetics
Cell Enlargement
Cell Proliferation - genetics
Child
Child, Preschool
Codon, Nonsense - genetics
Fatal Outcome
Female
Foot Dermatoses - genetics
Homozygote
Humans
Hyperkeratosis, Epidermolytic - genetics
Ichthyosis, Lamellar - genetics
Infant
Infant, Newborn
Intestinal Atresia - genetics
Keratinocytes - physiology
Male
Mice
Pedigree
Proteins - genetics
Water Loss, Insensible - genetics
title Ichthyosis as the dermatological phenotype associated with TTC7A mutations
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