A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome
© 2019 S. Karger AG, Basel. Copyright: All rights reserved. Infantile Cushing's syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia,...
Saved in:
Main Authors: | Prapai Dejkhamron, Chupong Ittiwut, Hataitip Tangngam, Kanokkarn Sunkonkit, Rungrote Natesirinilkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk |
---|---|
Format: | Journal |
Published: |
2019
|
Subjects: | |
Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85070508112&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/66608 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | Chiang Mai University |
Similar Items
-
Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation
by: Chitsanupong Ratarat, et al.
Published: (2019) -
Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia
by: Chupong Ittiwut, et al.
Published: (2018) -
Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations
by: Nalinee Pattrakornkul, et al.
Published: (2020) -
Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review
by: Tanu Tangsricharoen, et al.
Published: (2022) -
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
by: Pongsathorn Chaiyasap, et al.
Published: (2018)