IGSF1 deficiency syndrome
Author:
Publisher
Informa UK Limited
Subject
General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.4161/rdis.24883
Reference30 articles.
1. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
2. Cloning and Expression of an Immunoglobulin Superfamily Gene (IGSF1) in Xq25
3. Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25
4. An Internal Signal Sequence Directs Intramembrane Proteolysis of a Cellular Immunoglobulin Domain Protein
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2. Integrating DNA/RNA microbe detection and host response for accurate diagnosis, treatment and prognosis of childhood infectious meningitis and encephalitis;Journal of Translational Medicine;2024-06-20
3. A novel variant of <i>IGSF1</i> in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups;Clinical Pediatric Endocrinology;2024
4. Rare case of central congenital hypothyroidism due to aTSHβmutation presenting with macro-orchidism;BMJ Case Reports;2023-11
5. Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome;Hormones;2023-07-26
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