Prenatal exclusion of lameller ichthyosis based on two novel mutations in tgm 1 gene
Autosomal recessive Lamellar ichthyosis (LI) is a rare condition with the birth frequency of 1:300,000. We describe two sibs of LI born to the nonconsanguineous parents. DNA was isolated from the peripheral blood and CVS were processed for mutation search in transglutaminase gene (TGM 1) has reveale...
Saved in:
Main Authors: | Sheth Jayesh (Author), Shah Sumant (Author), Master Dilip (Author), Sheth Frenny (Author) |
---|---|
Format: | Book |
Published: |
Wolters Kluwer Medknow Publications,
2006-01-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis
by: Naomi Tani, et al.
Published: (2020) -
Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review
by: Jayesh Sheth, et al.
Published: (2019) -
Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report
by: Zeng J, et al.
Published: (2022) -
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review
by: Jayesh Sheth, et al.
Published: (2023) -
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report
by: Shruti Bajaj, et al.
Published: (2022)