Ichthyosis as the dermatological phenotype associated with TTC7A mutations. [electronic resource]
Producer: 20170911Description: 1061-1064 p. digitalISSN:- 1365-2133
- 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
No physical items for this record
Publication Type: Case Reports; Letter
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