منابع مشابه
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.
A utosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of inherited disorders of keratinisation, with an estimated incidence of one per 200 000 newborns. In Scandinavia, the prevalence is closer to one in 50 000. 3 By electron microscopy, ARCI can be classified into four subgroups—ichthyosis congenita I–IV—and one so far undefined group. Six loci h...
متن کاملLETTER TO JMG Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3–34.13
A utosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of inherited disorders of keratinisation, with an estimated incidence of one per 200 000 newborns. In Scandinavia, the prevalence is closer to one in 50 000. 3 By electron microscopy, ARCI can be classified into four subgroups—ichthyosis congenita I–IV—and one so far undefined group. Six loci h...
متن کاملIchthyosis prematurity syndrome: a case report and review of known mutations.
Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct populat...
متن کاملIchthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene‐a case report from India
Ichthyosis prematurity syndrome (IPS) is reported mainly from Scandinavia where most of the cases are homozygous or compound heterozygous for the nonsense mutation c.504C>A (p.Cys168*) in exon3 indicating a common ancestor for this mutation. The occurrence of IPS in an Indian patient suggests that it is more widespread than previously reported.
متن کاملIchthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features such as short stature, intellectual disability, and seizures may develop in the first few years of life. Skin histopathology is non-specific and consists of dilated hair follicles with keratin plug...
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ژورنال
عنوان ژورنال: JAMA Dermatology
سال: 2016
ISSN: 2168-6068
DOI: 10.1001/jamadermatol.2016.1187