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- Title
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.
- Authors
Chaudhry, Chakshu; Kaur, Parminder; Srivastava, Priyanka; Panigrahi, Inusha; Kaur, Anupriya
- Abstract
I ANTXR2 i mutations have been classified into four major categories class I, missense mutations in the vWA domain; class II, other missense mutations in exons 1-11; class III, mutations leading to premature stop codon (frameshift and splicing mutations); and class IV, missense mutations in the cytosolic tail.3 The child presented here had one class I mutation and the other class III mutation which is a novel mutation. A 3-month-old female child born of non-consanguineous marriage was referred with complaints that the baby cries excessively on handling (see Video S1).
- Subjects
INDIA; GENETIC variation; EXTRACELLULAR matrix proteins; MEDICAL genetics; CHILD patients; GENES
- Publication
Congenital Anomalies, 2021, Vol 61, Issue 4, p140
- ISSN
0914-3505
- Publication type
Article
- DOI
10.1111/cga.12414