[引用][C] Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy—expanding the differential diagnosis for pachyonychia congenita
NJ Wilson, CD Hansen, D Azkur… - Journal of …, 2013 - jdsjournal.com
Fig. 1.(a) Pedigree of Family 1.(b) Pedigree of Family 2. Clinical pictures of the proband of
Family 1 showing involvement of all (c) finger and (d) toenails which were thickened and
discoloured since birth.(e) Normal FZD6 sequence in exon 5, showing nucleotides 1519–
1533.(f) The equivalent region as in (e) from the mother showing heterozygous mutation.(g)
The equivalent region as in (e) from the proband showing homozygous nonsense mutation,
p. Arg509Ter, c. 1525C> T (arrow).(h) Alignment of part of exon 5 from orthologous FZD6 …
Family 1 showing involvement of all (c) finger and (d) toenails which were thickened and
discoloured since birth.(e) Normal FZD6 sequence in exon 5, showing nucleotides 1519–
1533.(f) The equivalent region as in (e) from the mother showing heterozygous mutation.(g)
The equivalent region as in (e) from the proband showing homozygous nonsense mutation,
p. Arg509Ter, c. 1525C> T (arrow).(h) Alignment of part of exon 5 from orthologous FZD6 …
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