Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis
J Eur Acad Dermatol Venereol
.
2018 Mar;32(3):e110-e112.
doi: 10.1111/jdv.14618.
Epub 2017 Oct 27.
Authors
A Diociaiuti
1
,
E Pisaneschi
2
,
G Zambruno
1
,
A Angioni
2
,
A Novelli
2
,
R Boldrini
3
,
M El Hachem
1
Affiliations
1
Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
2
Molecular Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
3
Department of Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
PMID:
28983987
DOI:
10.1111/jdv.14618
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Child, Preschool
Female
Genes, Recessive*
Humans
Ichthyosis, Lamellar / genetics*
Italy
Lipase / genetics*
Mutation, Missense*
Siblings*
Substances
Lipase
PNPLA1 protein, human